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Substantial progress has been made in the standardization of nomenclature for paediatric and congenital cardiac care. In 1936, Maude Abbott published her Atlas of Congenital Cardiac Disease, which was the first formal attempt to classify congenital heart disease. The International Paediatric and Congenital Cardiac Code (IPCCC) is now utilized worldwide and has most recently become the paediatric and congenital cardiac component of the Eleventh Revision of the International Classification of Diseases (ICD-11). The most recent publication of the IPCCC was in 2017. This manuscript provides an updated 2021 version of the IPCCC.The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD), in collaboration with the World Health Organization (WHO), developed the paediatric and congenital cardiac nomenclature that is now within the eleventh version of the International Classification of Diseases (ICD-11). This unification of IPCCC and ICD-11 is the IPCCC ICD-11 Nomenclature and is the first time that the clinical nomenclature for paediatric and congenital cardiac care and the administrative nomenclature for paediatric and congenital cardiac care are harmonized. The resultant congenital cardiac component of ICD-11 was increased from 29 congenital cardiac codes in ICD-9 and 73 congenital cardiac codes in ICD-10 to 318 codes submitted by ISNPCHD through 2018 for incorporation into ICD-11. After these 318 terms were incorporated into ICD-11 in 2018, the WHO ICD-11 team added an additional 49 terms, some of which are acceptable legacy terms from ICD-10, while others provide greater granularity than the ISNPCHD thought was originally acceptable. Thus, the total number of paediatric and congenital cardiac terms in ICD-11 is 367. In this manuscript, we describe and review the terminology, hierarchy, and definitions of the IPCCC ICD-11 Nomenclature. This article, therefore, presents a global system of nomenclature for paediatric and congenital cardiac care that unifies clinical and administrative nomenclature.The members of ISNPCHD realize that the nomenclature published in this manuscript will continue to evolve. The version of the IPCCC that was published in 2017 has evolved and changed, and it is now replaced by this 2021 version. In the future, ISNPCHD will again publish updated versions of IPCCC, as IPCCC continues to evolve.

BackgroundWe can improve healthcare services by better understanding current provision. One way to understand this is by linking data sets from clinical and national audits, national registries and other National Health Service (NHS) encounter data. However, getting to the point of having linked national data sets is challenging.ObjectiveWe describe our experience of the data application and linkage process for our study ‘LAUNCHES QI’, and the time, processes and resource requirements involved. To help others planning similar projects, we highlight challenges encountered and advice for applications in the current system as well as suggestions for system improvements.FindingsThe study set up for LAUNCHES QI began in March 2018, and the process through to data acquisition took 2.5 years. Several challenges were encountered, including the amount of information required (often duplicate information in different formats across applications), lack of clarity on processes, resource constraints that limit an audit’s capacity to fulfil requests and the unexpected amount of time required from the study team. It is incredibly difficult to estimate the resources needed ahead of time, and yet necessary to do so as early on as funding applications. Early decisions can have a significant impact during latter stages and be hard to change, yet it is difficult to get specific information at the beginning of the process.ConclusionsThe current system is incredibly complex, arduous and slow, stifling innovation and delaying scientific progress. NHS data can inform and improve health services and we believe there is an ethical responsibility to use it to do so. Streamlining the number of applications required for accessing data for health services research and providing clarity to data controllers could facilitate the maintenance of stringent governance, while accelerating scientific studies and progress, leading to swifter application of findings and improvements in healthcare.

ObjectiveGiven the paucity of long-term outcome data for complex congenital heart disease (CHD), we aimed to describe the treatment pathways and survival for patients who started interventions for functionally univentricular heart (FUH) conditions, excluding hypoplastic left heart syndrome.MethodsWe performed a retrospective cohort study using all procedure records from the National Congenital Heart Diseases Audit for children born in 2000–2018. The primary outcome was mortality, ascertained from the Office for National Statistics in 2020.ResultsOf 53 615 patients, 1557 had FUH: 55.9% were boys and 67.4% were of White ethnic groups. The largest diagnostic categories were tricuspid atresia (28.9%), double inlet left ventricle (21.0%) and unbalanced atrioventricular septal defect (AVSD) (15.2%). The ages at staged surgery were: initial palliation 11.5 (IQR 5.5–43.5) days, cavopulmonary shunt 9.2 (IQR 6.0–17.1) months and Fontan 56.2 (IQR 45.5–70.3) months. The median follow-up time was 10.8 (IQR 7.0–14.9) years and the 1, 5 and 10-year survival rates after initial palliation were 83.6% (95% CI 81.7% to 85.4%), 79.4% (95% CI 77.3% to 81.4%) and 77.2% (95% CI 75.0% to 79.2%), respectively. Higher hazards were present for unbalanced AVSD HR 2.75 (95% CI 1.82 to 4.17), atrial isomerism HR 1.75 (95% CI 1.14 to 2.70) and low weight HR 1.65 (95% CI 1.13 to 2.41), critical illness HR 2.30 (95% CI 1.67 to 3.18) or acquired comorbidities HR 2.71 (95% CI 1.82 to 4.04) at initial palliation.ConclusionAlthough treatment pathways for FUH are complex and variable, nearly 8 out of 10 children survived to 10 years. Longer-term analyses of outcome based on diagnosis (rather than procedure) can inform parents, patients and clinicians, driving practice improvements for complex CHD.

The aim was to describe the psychological functioning of parents of school-age children with heart disease (HD) in a large-scale, transnational evaluation of parent dyads across the spectrum of cardiac diagnoses and a range of psychosocial domains. Parents of children with HD attending routine out-patient cardiology follow-up visits completed questionnaires assessing their mental health, coping, and family functioning. Parents (1197 mothers and 1053 fathers) of 1214 children (mean age: 12.6 years; S.D. 3.0 years; median time since last surgery: 8.9 years) with congenital or acquired HD from three centers each in the UK and the USA participated (80% response rate). Parents of children with milder HD demonstrated few differences from healthy norms and had significantly lower scores on measures of illness-related stress and post-traumatic stress than parents of children with single ventricle conditions or cardiomyopathy. Parents in these latter two diagnostic sub-groups had significantly higher levels of anxiety and depression than healthy norms but did not differ on other measures of family functioning and coping skills. There were few differences between parents from the UK and the USA. Agreement between mothers and fathers within a dyad was highest for the measure of frequency of illness-related stressors (ICC = 0.67) and lowest for anxiety (ICC = 0.12).Conclusion: Our results suggest two different pathways for the long-term psychological well-being of parents of children with HD: on the one hand, more complex HD is associated with poorer long-term psychosocial outcomes; in contrast, there are also grounds for optimism, particularly for parents of children with less complex conditions, with better psychological outcomes noted for some groups of parents compared to previously reported early psychosocial outcomes. Future work needs to identify factors other than disease severity which might explain poorer (or better) functioning in some parents of children with more complex HD. What is Known: • Parents of children with congenital heart disease report elevated levels of anxiety, depression, and stress after cardiac surgery in infancy. • Maternal mental health problems can have an adverse impact on the psychological adjustment of the child with congenital heart disease. What is New: • Parents of children with milder forms of heart disease do not differ from healthy norms in the longer term and psychological outcomes are better than might be expected from early findings. • More complex diagnoses, particularly functional single ventricle conditions and cardiomyopathy, are associated with poorer long-term psychosocial outcomes for parents.

IntroductionThe objective of this study was to prospectively validate the “Brief Developmental Assessment”, which is a new early recognition tool for neurodevelopmental abnormalities in children with heart disease that was developed for use by cardiac teams.MethodsThis was a prospective validation study among a representative sample of 960 pre-school children with heart disease from three United Kingdom tertiary cardiac centres who were analysed grouped into five separate age bands.ResultsThe “Brief Developmental Assessment” was successfully validated in the older four age bands, but not in the youngest representing infants under the age of 4 months, as pre-set validation thresholds were met – lower 95% confidence limit for the correlation coefficient above 0.75 – in terms of agreement of scores between two raters and with an external measure the “Mullen Scales of Early Learning”. On the basis of American Association of Pediatrics Guidelines, which state that the sensitivity and specificity of a developmental screening tool should fall between 70 and 80%, “Brief Developmental Assessment” outcome of Red meets this threshold for detection of Mullen scores >2 standard deviations below the mean.ConclusionThe “Brief Developmental Assessment” may be used to improve the quality of assessment of children with heart disease. This will require a training package for users and a guide to action for abnormal results. Further research is needed to determine how best to deploy the “Brief Developmental Assessment” at different time points in children with heart disease and to determine the management strategy in infants younger than 4 months old.

ObjectiveCommercial airplanes fly with an equivalent cabin fraction of inspired oxygen of 0.15, leading to reduced oxygen saturation (SpO2) in passengers. How this affects children with complex congenital heart disease (CHD) is unknown. We conducted Hypoxic Challenge Testing (HCT) to assess need for inflight supplemental oxygen.MethodsChildren aged 2 (≥95% vs 2, heart rate, QT interval corrected for heart rate and partial pressure of carbon dioxide measured transcutaneously (PtcCO2). A test failed when children with (1) normal baseline SpO2 desaturated to 85%, (2) baseline SpO285%–94% desaturated by 15% of baseline; and (3) baseline SpO275%–84% desaturated to 70%.ResultsThere were 68 children, mean age 3.3 years (range 10 weeks–14.5 years). Children with normal (n=36) baseline SpO2 desaturated from median 99% to 91%, P2 (n=32) desaturated from median 84% to 76%, P2, heart rate and QT interval corrected for heart rate were unaffected by the hypoxic state.ConclusionsThis is the first evidence to help guide which children with CHD need a preflight HCT. We suggest all children with an actual or potential R–L shunt should be tested.

ObjectiveTo describe the long-term outcomes, treatment pathways and risk factors for patients diagnosed with hypoplastic left heart syndrome (HLHS) in England and Wales.MethodsThe UK’s national audit database captures every procedure undertaken for congenital heart disease and updated life status for resident patients in England and Wales. Patients with HLHS born between 2000 and 2015 were identified using codes from the International Paediatric and Congenital Cardiac Code.ResultsThere were 976 patients with HLHS. Of these, 9.6% had a prepathway intervention, 89.5% underwent a traditional pathway of staged palliation and 6.4% of infants underwent a hybrid pathway. Patients undergoing prepathway procedures or the hybrid pathway were more complex, exhibiting higher rates of prematurity and acquired comorbidity. Prepathway intervention was associated with the highest in-hospital mortality (34.0%).44.6% of patients had an off-pathway procedure after their primary procedure, most frequently stenting or dilation of residual or recoarctation and most commonly occurring between stage 1 and stage 2.The survival rate at 1 year and 5 years was 60.7% (95% CI 57.5 to 63.7) and 56.3% (95% CI 53.0 to 59.5), respectively. Patients with an antenatal diagnosis (multivariable HR (MHR) 1.63 (95% CI 1.12 to 2.38)), low weight (ConclusionTreatment pathways among patients with HLHS are complex and variable. It is essential that the long-term outcomes of conditions like HLHS that require serial interventions are studied to provide a fuller picture and to inform quality assurance and improvement.

Biykem Bozkurt, MD, PhD, FACC, FAHA, Chair H. Vernon Anderson, MD, FACC, FAHA Garth N. Graham, MD, FACC Hani Jneid, MD, FACC, FAHA Gail K. Jones, MD David Kao, MD, FAHA Michael Kutcher, MD, FACC Leo Lopez, MD, FACC Gregory Marcus, MD, FACC, FAHA Jennifer Rymer, MD James E. Tcheng, MD

ObjectiveTo describe neurodevelopment and follow-up services in preschool children with heart disease (HD).DesignSecondary analysis of a prospectively collected multicentre dataset.SettingThree London tertiary cardiac centres.PatientsPreschool childrenMethodsWe analysed results of Mullen Scales of Early Learning (MSEL) and parental report of follow-up services in a representative convenience sample evaluated between January 2014 and July 2015 within a previous study.ResultsOf 971 preschool children: 577 (59.4%) had ≥1 heart operation, 236 (24.3%) had a known diagnosis linked to developmental delay (DD) (‘known group’) and 130 (13.4%) had history of clinical event linked to DD. On MSEL assessment, 643 (66.2%) had normal development, 181 (18.6%) had borderline scores and 147 (15.1%) had scores indicative of DD. Of 971 children, 609 (62.7%) were not receiving follow-up linked to child development and were more likely to be under these services with a known group diagnosis, history of clinical event linked to DD and DD (defined by MSEL). Of 236 in known group, parents of 77 (32.6%) and of 48 children not in a known group but with DD 29 (60.4%), reported no child development related follow-up. DD defined by MSEL assessment was more likely with a known group and older age at assessment.ConclusionsOur findings indicate that a ‘structured neurodevelopmental follow-up pathway’ in preschool children with HD should be considered for development and evaluation as children get older, with particular focus on those at higher risk.

BackgroundMorbidity is defined as a state of being unhealthy or of experiencing an aspect of health that is “generally bad for you”, and postoperative morbidity linked to paediatric cardiac surgery encompasses a range of conditions that may impact the patient and are potential targets for quality assurance.MethodsAs part of a wider study, a multi-disciplinary group of professionals aimed to define a list of morbidities linked to paediatric cardiac surgery that was prioritised by a panel reflecting the views of both professionals from a range of disciplines and settings as well as parents and patients.ResultsWe present a set of definitions of morbidity for use in routine audit after paediatric cardiac surgery. These morbidities are ranked in priority order as acute neurological event, unplanned re-operation, feeding problems, the need for renal support, major adverse cardiac events or never events, extracorporeal life support, necrotising enterocolitis, surgical site of blood stream infection, and prolonged pleural effusion or chylothorax. It is recognised that more than one such morbidity may arise in the same patient and these are referred to as multiple morbidities, except in the case of extracorporeal life support, which is a stand-alone constellation of morbidity.ConclusionsIt is feasible to define a range of paediatric cardiac surgical morbidities for use in routine audit that reflects the priorities of both professionals and parents. The impact of these morbidities on the patient and family will be explored prospectively as part of a wider ongoing, multi-centre study.

An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many “short list” versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various “short lists”. In an attempt to solve this problem, the International Nomenclature Society has linked its efforts with those of the World Health Organization to obtain a globally accepted nomenclature tree for CHD within the 11th iteration of the International Classification of Diseases (ICD-11). The International Nomenclature Society has submitted a hierarchical nomenclature tree for CHD to the World Health Organization that is expected to serve increasingly as the “short list” for all communities interested in coding for congenital cardiology. This article reviews the history of the International Classification of Diseases and of the IPCCC, and outlines the process used in developing the ICD-11 congenital cardiac disease diagnostic list and the definitions for each term on the list. An overview of the content of the congenital heart anomaly section of the Foundation Component of ICD-11, published herein in its entirety, is also included. Future plans for the International Nomenclature Society include linking again with the World Health Organization to tackle procedural nomenclature as it relates to cardiac malformations. By doing so, the Society will continue its role in standardising nomenclature for CHD across the globe, thereby promoting research and better outcomes for fetuses, children, and adults with congenital heart anomalies.

The American College of Cardiology (ACC) and the American Heart Association (AHA) support their members’ goal to improve the care of patients with cardiovascular disease through professional education, research, and development of guidelines and standards and by fostering policies that support optimal patient outcomes. The ACC and AHA recognize the importance of the use of clinical data standards for patient management, assessment of outcomes, and conduct of research, and the importance of defining the processes and outcomes of clinical care, whether in randomized trials, observational studies, registries, or quality improvement initiatives. Clinical data standards strive to define and standardize data relevant to clinical concepts, with the primary goal of facilitating uniform data collection by providing a platform of clinical terms with corresponding definitions and data elements. Broad agreement on a …

BackgroundIn 2011, we developed a risk model for 30-day mortality after children’s heart surgery. The PRAiS (Partial Risk Adjustment in Surgery) model uses data on the procedure performed, diagnosis, age, weight and comorbidity. Our treatment of comorbidity was simplistic because of data quality. Software that implements PRAiS is used by the National Congenital Heart Disease Audit (NCHDA) in its audit work. The use of PRAiS triggered the temporary suspension of surgery at one unit in 2013. The public anger that surrounded this illustrated the need for public resources around outcomes monitoring.Objectives(1) To improve the PRAiS risk model by incorporating more information about comorbidities. (2) To develop online resources for the public to help them to understand published mortality data.DesignObjective 1 The outcome measure was death within 30 days of the start of each surgical episode of care. The analysts worked with an expert panel of clinical and data management representatives. Model development followed an iterative process of clinical discussion of risk factors, development of regression models and assessment of model performance under cross-validation. Performance was measured using the area under the receiving operator characteristic (AUROC) curve and calibration in the cross-validation test sets. The final model was further assessed in a 2014–15 validation data set.Objective 2 We developed draft website material that we iteratively tested through four sets of two workshops (one workshop for parents of children who had undergone heart surgery and one workshop for other interested users). Each workshop recruited new participants. The academic psychologists ran two sets of three experiments to explore further understanding of the web content.DataWe used pseudonymised NCHDA data from April 2009 to April 2014. We later unexpectedly received a further year of data (2014–15), which became a prospective validation set.ResultsObjective 1The cleaned 2009–14 data comprised 21,838 30-day surgical episodes, with 539 deaths. The 2014–15 data contained 4207 episodes, with 97 deaths. The final regression model included four new comorbidity groupings. Under cross-validation, the model had a median AUROC curve of 0.83 (total range 0.82 to 0.83), a median calibration slope of 0.92 (total range 0.64 to 1.25) and a median intercept of –0.23 (range –1.08 to 0.85). In the validation set, the AUROC curve was 0.86 [95% confidence interval (CI) 0.83 to 0.89], and its calibration slope and intercept were 1.01 (95% CI 0.83 to 1.18) and 0.11 (95% CI –0.45 to 0.67), respectively. We recalibrated the final model on 2009–15 data and updated the PRAiS software.Objective 2We coproduced a website (http://childrensheartsurgery.info/) that provides interactive exploration of the data, two animations and background information. It was launched in June 2016 and was very well received.LimitationsWe needed to use discharge status as a proxy for 30-day life status for the 14% of overseas patients without a NHS number. We did not have sufficient time or resources to extensively test the usability and take-up of the website following its launch.ConclusionsThe project successfully achieved its stated aims. A key theme throughout has been the importance of collaboration and coproduction. In particular for aim 2, we generated a great deal of generalisable learning about how to communicate complex clinical and mathematical information.Further workExtending our codevelopment approach to cover many other aspects of quality measurement across congenital heart disease and other specialised NHS services.FundingThe National Institute for Health Research Health Services and Delivery Research programme.

Objective The study objective was to develop a risk model incorporating diagnostic information to adjust for case-mix severity during routine monitoring of outcomes for pediatric cardiac surgery. Methods Data from the Central Cardiac Audit Database for all pediatric cardiac surgery procedures performed in the United Kingdom between 2000 and 2010 were included: 70% for model development and 30% for validation. Units of analysis were 30-day episodes after the first surgical procedure. We used logistic regression for 30-day mortality. Risk factors considered included procedural information based on Central Cardiac Audit Database "specific procedures," diagnostic information defined by 24 "primary" cardiac diagnoses and "univentricular" status, and other patient characteristics. Results Of the 27,140 30-day episodes in the development set, 25,613 were survivals, 834 were deaths, and 693 were of unknown status (mortality, 3.2%). The risk model includes procedure, cardiac diagnosis, univentricular status, age band (neonate, infant, child), continuous age, continuous weight, presence of non–Down syndrome comorbidity, bypass, and year of operation 2007 or later (because of decreasing mortality). A risk score was calculated for 95% of cases in the validation set (weight missing in 5%). The model discriminated well; the C-index for validation set was 0.77 (0.81 for post-2007 data). Removal of all but procedural information gave a reduced C-index of 0.72. The model performed well across the spectrum of predicted risk, but there was evidence of underestimation of mortality risk in neonates undergoing operation from 2007. Conclusions The risk model performs well. Diagnostic information added useful discriminatory power. A future application is risk adjustment during routine monitoring of outcomes in the United Kingdom to assist quality assurance.

Williams syndrome is a well-recognised congenital disorder characterised by cardiovascular, connective tissue, and central nervous system abnormalities. Coronary artery abnormalities are seen in patients with supravalvar aortic stenosis, but end-stage ischaemic heart disease is rare. We report a case of end-stage ischaemic heart disease due to severe coronary arterial stenosis, highlighting how cardiovascular MRI contributed to the management.

Background When considering early survival rates after pediatric cardiac surgery it is essential to adjust for risk linked to case complexity. An important but previously less well understood component of case mix complexity is comorbidity. Methods The National Congenital Heart Disease Audit data representing all pediatric cardiac surgery procedures undertaken in the United Kingdom and Ireland between 2009 and 2014 was used to develop and test groupings for comorbidity and additional non–procedure-based risk factors within a risk adjustment model for 30-day mortality. A mixture of expert consensus based opinion and empiric statistical analyses were used to define and test the new comorbidity groups. Results The study dataset consisted of 21,838 pediatric cardiac surgical procedure episodes in 18,834 patients with 539 deaths (raw 30-day mortality rate, 2.5%). In addition to surgical procedure type, primary cardiac diagnosis, univentricular status, age, weight, procedure type (bypass, nonbypass, or hybrid), and era, the new risk factor groups of non-Down congenital anomalies, acquired comorbidities, increased severity of illness indicators (eg, preoperative mechanical ventilation or circulatory support) and additional cardiac risk factors (eg, heart muscle conditions and raised pulmonary arterial pressure) all independently increased the risk of operative mortality. Conclusions In an era of low mortality rates across a wide range of operations, non–procedure-based risk factors form a vital element of risk adjustment and their presence leads to wide variations in the predicted risk of a given operation.

Background Surgical complexity and related morbidities may affect long‐term patient quality of life ( QOL ). Aristotle Basic Complexity ( ABC ) score and Risk Adjustment in Congenital Heart Surgery ( RACHS ‐1) category stratify the complexity of pediatric cardiac operations. The purpose of this study was to examine the relationship between surgical complexity and QOL and to investigate other demographic and clinical variables that might explain variation in QOL in pediatric cardiac surgical survivors. Methods and Results Pediatric Cardiac Quality of Life ( PCQLI ) study participants who had undergone cardiac surgery were included. The PCQLI database provided sample characteristics and QOL scores. Surgical complexity was defined by the highest ABC raw score or RACHS ‐1 category. Relationships among surgical complexity and demographic, clinical, and QOL variables were assessed using ordinary least squares regression. A total of 1416 patient–parent pairs were included. Although higher ABC scores and RACHS ‐1 categories were associated with lower QOL scores ( P QOL scores was poor to fair ( r =−0.10 to −0.29) for all groups. Ordinary least squares regression showed weak association with R 2 =0.06 to R 2 =0.28. After accounting for single‐ventricle anatomy, number of doctor visits, and time since last hospitalization, surgical complexity scores added no additional explanation to the variance in QOL scores. Conclusions ABC scores and RACHS ‐1 categories are useful tools for morbidity and mortality predictions prior to cardiac surgery and quality of care initiatives but are minimally helpful in predicting a child's or adolescent's long‐term QOL scores. Further studies are warranted to determine other predictors of QOL variation.

Background Improvements in hospital‐based care have reduced early mortality in congenital heart disease. Later adverse outcomes may be reducible by focusing on care at or after discharge. We aimed to identify risk factors for such events within 1 year of discharge after intervention in infancy and, separately, to identify subgroups that might benefit from different forms of intervention. Methods and Results Cardiac procedures performed in infants between 2005 and 2010 in England and Wales from the UK National Congenital Heart Disease Audit were linked to intensive care records. Among 7976 infants, 333 (4.2%) died before discharge. Of 7643 infants discharged alive, 246 (3.2%) died outside the hospital or after an unplanned readmission to intensive care (risk factors were age, weight‐for‐age, cardiac procedure, cardiac diagnosis, congenital anomaly, preprocedural clinical deterioration, prematurity, ethnicity, and duration of initial admission; c‐statistic 0.78 [0.75–0.82]). Of the 7643, 514 (6.7%) died outside the hospital or had an unplanned intensive care readmission (same risk factors but with neurodevelopmental condition and acquired cardiac diagnosis and without preprocedural deterioration; c‐statistic 0.78 [0.75–0.80]). Classification and regression tree analysis were used to identify 6 subgroups stratified by the level (3–24%) and nature of risk for death outside the hospital or unplanned intensive care readmission based on neurodevelopmental condition, cardiac diagnosis, congenital anomaly, and duration of initial admission. An additional 115 patients died after planned intensive care admission (typically following elective surgery). Conclusions Adverse outcomes in the year after discharge are of similar magnitude to in‐hospital mortality, warrant service improvements, and are not confined to diagnostic groups currently targeted with enhanced monitoring.

IntroductionEthnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking. We investigated ethnic variations in incidence of serious CHDs requiring cardiac intervention before 1 year of age.MethodsAll infants who had a cardiac intervention in England and Wales between 1 January 2005 and 31 December 2010 were identified in the national congenital heart disease surgical audit and matched with paediatric intensive care admission records to create linked individual child records. Agreement in reporting of ethnic group by each audit was evaluated. For infants born 1 January 2006 to 31 December 2009, we calculated incidence rate ratios (IRRs) for CHDs by ethnicity and investigated age at intervention, antenatal diagnosis and area deprivation.ResultsWe identified 5350 infants (2940 (55.0%) boys). Overall CHD incidence was significantly higher in Asian and Black ethnic groups compared with the White reference population (incidence rate ratios (IRR) (95% CIs): Asian 1.5 (1.4 to 1.7); Black 1.4 (1.3 to 1.6)); incidence of specific CHDs varied by ethnicity. No significant differences in age at intervention or antenatal diagnosis rates were identified but affected children from non-White ethnic groups were more likely to be living in deprived areas than White children.ConclusionsSignificant ethnic variations exist in the incidence of CHDs, including for specific defects with high infant mortality. It is essential that healthcare provision mitigates ethnic disparity, including through timely identification of CHDs at screening, supporting parental choice and effective interventions. Future research should explore the factors underlying ethnic variation and impact on longer-term outcomes.

BackgroundWhile early outcomes of paediatric cardiac surgery have improved, less attention has been given to later outcomes including post-discharge mortality and emergency readmissions.ObjectivesOur objectives were to use a mixed-methods approach to build an evidenced-based guideline for postdischarge management of infants undergoing interventions for congenital heart disease (CHD).MethodsSystematic reviews of the literature – databases used: MEDLINE (1980 to 1 February 2013), EMBASE (1980 to 1 February 2013), Cumulative Index to Nursing and Allied Health Literature (CINAHL; 1981 to 1 February 2013), The Cochrane Library (1999 to 1 February 2013), Web of Knowledge (1980 to 1 February 2013) and PsycINFO (1980 to 1 February 2013). Analysis of audit data from the National Congenital Heart Disease Audit and Paediatric Intensive Care Audit Network databases pertaining to records of infants undergoing interventions for CHD between 1 January 2005 and 31 December 2010. Qualitative analyses of online discussion posted by 73 parents, interviews with 10 helpline staff based at user groups, interviews with 20 families whose infant either died after discharge or was readmitted urgently to intensive care, and interviews with 25 professionals from tertiary care and 13 professionals from primary and secondary care. Iterative multidisciplinary review and discussion of evidence incorporating the views of parents on suggestions for improvement.ResultsDespite a wide search strategy, the studies identified for inclusion in reviews related only to patients with complex CHD, for whom adverse outcome was linked to non-white ethnicity, lower socioeconomic status, comorbidity, age, complexity and feeding difficulties. There was evidence to suggest that home monitoring programmes (HMPs) are beneficial. Of 7976 included infants, 333 (4.2%) died postoperatively, leaving 7634 infants, of whom 246 (3.2%) experienced outcome 1 (postdischarge death) and 514 (6.7%) experienced outcome 2 (postdischarge death plus emergency intensive care readmissions). Multiple logistic regression models for risk of outcomes 1 and 2 had areas under the receiver operator curve of 0.78 [95% confidence interval (CI) 0.75 to 0.82] and 0.78 (95% CI 0.75 to 0.80), respectively. Six patient groups were identified using classification and regression tree analysis to stratify by outcome 2 (range 3–24%), which were defined in terms of neurodevelopmental conditions, high-risk cardiac diagnosis (hypoplastic left heart, single ventricle or pulmonary atresia), congenital anomalies and length of stay (LOS) > 1 month. Deficiencies and national variability were noted for predischarge training and information, the process of discharge to non-specialist services including documentation, paediatric cardiology follow-up including HMP, psychosocial support post discharge and the processes for accessing help when an infant becomes unwell.ConclusionsNational standardisation may improve discharge documents, training and guidance on ‘what is normal’ and ‘signs and symptoms to look for’, including how to respond. Infants with high-risk cardiac diagnoses, neurodevelopmental conditions or LOS > 1 month may benefit from discharge via their local hospital. HMP is suggested for infants with hypoplastic left heart, single ventricle or pulmonary atresia. Discussion of postdischarge deaths for infant CHD should occur at a network-based multidisciplinary meeting. Audit is required of outcomes for this stage of the patient journey.Future workFurther research may determine the optimal protocol for HMPs, evaluate the use of traffic light tools for monitoring infants post discharge and develop the analytical steps and processes required for audit of postdischarge metrics.Study registrationThis study is registered as PROSPERO CRD42013003483 and CRD42013003484.FundingThe National Institute for Health Research Health Services and Delivery Research programme. The National Congenital Heart Diseases Audit (NCHDA) and Paediatric Intensive Care Audit Network (PICANet) are funded by the National Clinical Audit and Patient Outcomes Programme, administered by the Healthcare Quality Improvement Partnership (HQIP). PICAnet is also funded by Welsh Health Specialised Services Committee; NHS Lothian/National Service Division NHS Scotland, the Royal Belfast Hospital for Sick Children, National Office of Clinical Audit Ireland, and HCA International. The study was supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. Sonya Crowe was supported by the Health Foundation, an independent charity working to continuously improve the quality of health care in the UK.

Epidemiological studies suggest a higher prevalence of congenital malformations in children conceived through assisted reproductive technologies. There are a few studies that address CHD specifically and most have examined data from registries. We examined the relationship between CHD and assisted conception using data collected in a specialist paediatric cardiac service in the United Kingdom.Between April, 2010 and July, 2011, the parents of children attending paediatric cardiology clinics at the Royal Brompton Hospital, London, were invited to complete a questionnaire that enquired about the nature of their child’s conception, the route for their original referral, and a number of potential confounding exposures. “Cases” were defined as children diagnosed with one or more carefully defined CHDs and “controls” as those with normal hearts.Of 894 new attendees with complete data, half of them were cases (n=410, 45.9%). The overall prevalence of assisted conception was 5.4% (n=44). Logistic regression analysis demonstrated a non-significant increase in the crude odds for the use of assisted reproduction (odds ratio 1.21, 95% confidence interval 0.66–2.22) in this group. After adjustment for gestation, parity, year of birth, and maternal age, the odds ratio reduced (odds ratio 0.95, 95% confidence interval 0.48–1.88). Increased rates of assisted conception were observed in a number of CHD subgroups, although no significant differences were found.These findings do not suggest an overall association between CHD and assisted reproduction in this population.

In 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. This committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group. The Nomenclature Working Group created the International Paediatric and Congenital Cardiac Code, which is available for free download from the internet at [http://www.IPCCC.NET].In previous publications from the Nomenclature Working Group, unity has been produced by cross-mapping separate systems for coding, as for example in the treatment of the functionally univentricular heart, hypoplastic left heart syndrome, or congenitally corrected transposition. In this manuscript, we review the nomenclature, definition, and classification of heterotaxy, also known as the heterotaxy syndrome, placing special emphasis on the philosophical approach taken by both the Bostonian school of segmental notation developed from the teachings of Van Praagh, and the European school of sequential segmental analysis. The Nomenclature Working Group offers the following definition for the term “heterotaxy”: “Heterotaxy is synonymous with ‘visceral heterotaxy’ and ‘heterotaxy syndrome’. Heterotaxy is defined as an abnormality where the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. By convention, heterotaxy does not include patients with either the expected usual or normal arrangement of the internal organs along the left-right axis, also known as ‘situs solitus’, nor patients with complete mirror-imaged arrangement of the internal organs along the left-right axis also known as ‘situs inversus’.” “Situs ambiguus is defined as an abnormality in which there are components of situs solitus and situs inversus in the same person. Situs ambiguus, therefore, can be considered to be present when the thoracic and abdominal organs are positioned in such a way with respect to each other as to be not clearly lateralised and thus have neither the usual, or normal, nor the mirror-imaged arrangements.”The heterotaxy syndrome as thus defined is typically associated with complex cardiovascular malformations. Proper description of the heart in patients with this syndrome requires complete description of both the cardiac relations and the junctional connections of the cardiac segments, with documentation of the arrangement of the atrial appendages, the ventricular topology, the nature of the unions of the segments across the atrioventricular and the ventriculoarterial junctions, the infundibular morphologies, and the relationships of the arterial trunks in space. The position of the heart in the chest, and the orientation of the cardiac apex, must also be described separately. Particular attention is required for the venoatrial connections, since these are so often abnormal. The malformations within the heart are then analysed and described separately as for any patient with suspected congenital cardiac disease. The relationship and arrangement of the remaining thoraco-abdominal organs, including the spleen, the lungs, and the intestines, also must be described separately, because, although common patterns of association have been identified, there are frequent exceptions to these common patterns. One of the clinically important implications of heterotaxy syndrome is that splenic abnormalities are common. Investigation of any patient with the cardiac findings associated with heterotaxy, therefore, should include analysis of splenic morphology. The less than perfect association between the state of the spleen and the form of heart disease implies that splenic morphology should be investigated in all forms of heterotaxy, regardless of the type of cardiac disease. The splenic morphology should not be used to stratify the form of disease within the heart, and the form of cardiac disease should not be used to stratify the state of the spleen. Intestinal malrotation is another frequently associated lesion that must be considered. Some advocate that all patients with heterotaxy, especially those with isomerism of the right atrial appendages or asplenia syndrome, should have a barium study to evaluate for intestinal malrotation, given the associated potential morbidity. The cardiac anatomy and associated cardiac malformations, as well as the relationship and arrangement of the remaining thoraco-abdominal organs, must be described separately. It is only by utilizing this stepwise and logical progression of analysis that it becomes possible to describe correctly, and to classify properly, patients with heterotaxy.

ObjectiveTo qualitatively assess the discharge processes and postdischarge care in the community for infants discharged after congenital heart interventions in the first year of life.DesignQualitative study using semistructured interviews and Framework Analysis.SettingUK specialist cardiac centres and the services their patients are discharged to.SubjectsTwenty-five cardiologists and nurses from tertiary centres, 11 primary and secondary health professionals and 20 parents of children who had either died after discharge or had needed emergency readmission.ResultsParticipants indicated that going home with an infant after cardiac intervention represents a major challenge for parents and professionals. Although there were reported examples of good care, difficulties are exacerbated by inconsistent pathways and potential loss of information between the multiple teams involved. Written documentation from tertiary centres frequently lacks crucial contact information and contains too many specialist terms. Non-tertiary professionals and parents may not hold the information required to respond appropriately when an infant deteriorates, this contributing to the stressful experience of managing these infants at home. Where they exist, the content of formal ‘home monitoring pathways’ varies nationally, and families can find this onerous.ConclusionsService improvements are needed for infants going home after cardiac intervention in the UK, focusing especially on enhancing mechanisms for effective transfer of information outside the tertiary centre and processes to assist with monitoring and triage of vulnerable infants in the community by primary and secondary care professionals. At present there is no routine audit for this stage of the patient journey.

For many years, paediatric cardiologists and paediatric cardiac surgeons have felt the need for a common diagnostic and therapeutic coding system with which to classify patients of all ages with congenital and acquired heart disease. This desire has been highlighted by the recent, and ongoing, enquiry into the outcome of paediatric cardiac surgery at the unit in Bristol, in the United Kingdom, and the resulting obligation to provide national and international comparisons of surgical results between centres caring for these patients. In order to incorporate effective clinical governance and best practice into our speciality, a method is required to gather accurate and validated data on the diagnosis, therapy and outcome of patients with heart disease from prenatal life through to adulthood. This would facilitate comparisons between individual units which fully take into account the mix of cases involved, and thus attempt to focus on the relevant and genuine factors underlying the differing outcomes in terms of both mortality and morbidity. For this to be achieved, it is essential to have a comprehensive system of coding and classification, using mutually exclusive and unambivalent terms. The system must be both easy to use, and fulfil the needs and expectations of widely different cultures of practice. Although many centres have developed their own system of internal audit, with their own coding system, and some co-operation has taken place between centres nationally and across international boundaries within Europe by the European Congenital Heart Surgeons Federation (see below), a cohesive, and comprehensive system suitable for setting standards has yet to emerge. Historically, this has partly been due to the lack of recognition by governments of the importance of such a process, with underfunding of initiatives aimed at addressing these issues, both technologically and in terms of human resources.

A newborn presenting with cyanosis at day 9 of life was admitted to the local hospital. Initial local echocardiography confirmed a cardiac issue and the patient was transferred to a tertiary cardiac hospital. Further imaging confirmed a rare presentation of cardiomyopathy with severe right ventricular outflow tract obstruction. Surgery was performed but with postoperative haemodynamic instability complicated by incessant ventricular tachycardia. Following discussion with the family, care was withdrawn. Postmortem demonstrated a rare form of hypertrophic cardiomyopathy with right ventricular outflow tract obstruction not previously described in a neonate.

Objectives Many infants die in the year following discharge from hospital after surgical or catheter intervention for congenital heart disease (3–5% of discharged infants). There is considerable variability in the provision of care and support in this period, and some families experience barriers to care. We aimed to identify ways to improve discharge and postdischarge care for this patient group. Design A systematic evidence synthesis aligned with a process of eliciting the perspectives of families and professionals from community, primary, secondary and tertiary care. Setting UK. Results A set of evidence-informed recommendations for improving the discharge and postdischarge care of infants following intervention for congenital heart disease was produced. These address known challenges with current care processes and, recognising current resource constraints, are targeted at patient groups based on the number of patients affected and the level and nature of their risk of adverse 1-year outcome. The recommendations include: structured discharge documentation, discharging certain high-risk patients via their local hospital, enhanced surveillance for patients with certain (high-risk) cardiac diagnoses and an early warning tool for parents and community health professionals. Conclusions Our recommendations set out a comprehensive, system-wide approach for improving discharge and postdischarge services. This approach could be used to address challenges in delivering care for other patient populations that can fall through gaps between sectors and organisations.

Objectives. The aim of this study was to examine the prognostic significance of ventricular arrhythmia on the ambulatory electrocardiogram (ECG) after repair of tetralogy of Fallot.Background. Ventricular arrhythmia is common after repair of tetralogy of Fallot and has been proposed as the basis for late sudden death. The prognostic significance of ventricular arrhythmia on ambulatory ECG and the indications for therapy are uncertain.Methods. We performed a 48-h ambulatory ECG in 86 patients (3 to 45 years old [mean age 14 years]) after repair of tetralogy of Fallot. These patients were then followed up prospectively for 12 years.Results. At initial assessment in 1980, 47 patients (55%) had infrequent uniform ventricular extrasystoles (16 patients) or normal cardiac rhythm (3 patients) (Group 1), and 39 patients (45%) had frequent uniform ventricular extrasystoles (>30/h, 2 patients), complex extrasystole (30 patients) or nonsustained ventricular tachycardia (7 patients) (Group 2). There were no significant clinical or hemodynamic differences between the groups. In addition, nine patients had supraventricular tachyarrhythmia. Antiarrhythmic therapy was prescribed only for the 10 patients who had symptoms attributable to arrhythmia. There were two sudden deaths in Group 1 (4%) and one nossudden death in Group 2 (2.5%). The absolute difference in mortality between groups was therefore 1.5% (95% confidence limits −6% to + 9%), excluding a clinically significant difference in outcome. All but 1 of the 39 patients with complex ventricular arrhythmia are alive and well, including those with elevated (≥60 mm Hg) right ventricular pressure.Conclusions. Nonsustained ventricular arrhythmia on ambulatory ECG does not identify patients at high risk for sudden death after repair of tetralogy of Fallot. There does not appear to be any advantage in potentially dangerous long-term antiarrhythmic therapy for asymptomatic postoperative patients.

Chylothorax after pediatric cardiac operations is associated with significant morbidity and increased hospitalization. An octreotide (a synthetic somatostatin analogue) infusion (1 to 4 microg/kg per hour) with medium-chain triglyceride diet or parenteral nutrition was used in 4 pediatric cardiac surgical patients after chylothorax was diagnosed. Resolution followed within 5 days in all without recurrence, while on a normal diet.

We report the case of an infant who was first seen with dilated cardiomyopathy at the age of 3 1/2 months and 2 months later, successfully underwent heterotopic cardiac transplantation in combination with partial left ventriculectomy. The benefits of combining both procedures in such a young infant particularly with regard to containment of early graft dysfunction, reduction of respiratory problems, and weight mismatch are discussed.

Survival before definitive operations was studied in 191 infants with double-inlet ventricle presenting before 1 year of age (1973 to 1988, median follow-up 8.5 years). The morphologic spectrum was broad, with a great prevalence of associated lesions. The actuarial survival rate before definitive repair was 57% at 1 year, 43% at 5 years, and 42% at 10 years, worse than prior reports because of the younger age at entry into our series. Analysis of univariate risk factors established that right atrial isomerism (18% of the group, relative risk 2.9), common atrioventricular orifice (42%, 2.0), pulmonary atresia (20%, 3.4), obstruction of the systemic outflow tract (18%, 2.5), and extracardiac anomalous pulmonary venous connection (13%, 3.1) were strongly associated with poorer survival. Pulmonary stenosis (40%, 0.35), balanced pulmonary blood flow (9%, 0.40), and presentation at an older age (33%, 0.42 to 0.18) were beneficial (p

Clinicians working in the field of congenital and paediatric cardiology have long felt the need for a common diagnostic and therapeutic nomenclature and coding system with which to classify patients of all ages with congenital and acquired cardiac disease. A cohesive and comprehensive system of nomenclature, suitable for setting a global standard for multicentric analysis of outcomes and stratification of risk, has only recently emerged, namely, The International Paediatric and Congenital Cardiac Code. This review, will give an historical perspective on the development of systems of nomenclature in general, and specifically with respect to the diagnosis and treatment of patients with paediatric and congenital cardiac disease. Finally, current and future efforts to merge such systems into the paperless environment of the electronic health or patient record on a global scale are briefly explored.On October 6, 2000, The International Nomenclature Committee for Pediatric and Congenital Heart Disease was established. In January, 2005, the International Nomenclature Committee was constituted in Canada as The International Society for Nomenclature of Paediatric and Congenital Heart Disease. This International Society now has three working groups. The Nomenclature Working Group developed The International Paediatric and Congenital Cardiac Code and will continue to maintain, expand, update, and preserve this International Code. It will also provide ready access to the International Code for the global paediatric and congenital cardiology and cardiac surgery communities, related disciplines, the healthcare industry, and governmental agencies, both electronically and in published form. The Definitions Working Group will write definitions for the terms in the International Paediatric and Congenital Cardiac Code, building on the previously published definitions from the Nomenclature Working Group. The Archiving Working Group, also known as The Congenital Heart Archiving Research Team, will link images and videos to the International Paediatric and Congenital Cardiac Code. The images and videos will be acquired from cardiac morphologic specimens and imaging modalities such as echocardiography, angiography, computerized axial tomography and magnetic resonance imaging, as well as intraoperative images and videos.Efforts are ongoing to expand the usage of The International Paediatric and Congenital Cardiac Code to other areas of global healthcare. Collaborative efforts are underway involving the leadership of The International Nomenclature Committee for Pediatric and Congenital Heart Disease and the representatives of the steering group responsible for the creation of the 11th revision of the International Classification of Diseases, administered by the World Health Organisation. Similar collaborative efforts are underway involving the leadership of The International Nomenclature Committee for Pediatric and Congenital Heart Disease and the International Health Terminology Standards Development Organisation, who are the owners of the Systematized Nomenclature of Medicine or “SNOMED”.The International Paediatric and Congenital Cardiac Code was created by specialists in the field to name and classify paediatric and congenital cardiac disease and its treatment. It is a comprehensive code that can be freely downloaded from the internet (http://www.IPCCC.net) and is already in use worldwide, particularly for international comparisons of outcomes. The goal of this effort is to create strategies for stratification of risk and to improve healthcare for the individual patient. The collaboration with the World Heath Organization, the International Health Terminology Standards Development Organisation, and the healthcare industry, will lead to further enhancement of the International Code, and to its more universal use.

Accurate, complete data is now the expectation of patients, families, payers, government, and even media. It has become an obligation of those practising congenital cardiac surgery. Appropriately, major professional organizations worldwide are assuming responsibility for the data quality in their respective registry databases.The purpose of this article is to review the current strategies used for verification of the data in the congenital databases of The Society of Thoracic Surgeons, The European Association for Cardio-Thoracic Surgery, and The United Kingdom Central Cardiac Audit Database. Because the results of the initial efforts to verify data in the congenital databases of the United Kingdom and Europe have been previously published, this article provides a more detailed look at the current efforts in North America, which prior to this article have not been published. The discussion and presentation of the strategy for the verification of data in the congenital heart surgery database of The Society of Thoracic Surgeons is then followed by a review of the strategies utilized in the United Kingdom and Europe. The ultimate goal of sharing the information in this article is to provide information to the participants in the databases that track the outcomes of patients with congenitally malformed hearts. This information should help to improve the quality of the data in all of our databases, and therefore increase the utility of these databases to function as a tool to optimise the management strategies provided to our patients.The need for accurate, complete and high quality Congenital Heart Surgery outcome data has never been more pressing. The public interest in medical outcomes is at an all time high and “pay for performance” is looming on the horizon. Information found in administrative databases is not risk or complexity adjusted, notoriously inaccurate, and far too imprecise to evaluate performance adequately in congenital cardiac surgery. The Society of Thoracic Surgeons and European Association for Cardio-Thoracic Surgery databases contain the elements needed for assessment of quality of care provided that a mechanism exists within these organizations to guarantee the completeness and accuracy of the data. The Central Cardiac Audit Database in the United Kingdom has an advantage in this endeavour with the ability to track and verify mortality independently, through their National Health Service.A combination of site visits with “Source Data Verification”, in other words, verification of the data at the primary source of the data, and external verification of the data from independent databases or registries, such as governmental death registries, may ultimately be required to allow for optimal verification of data. Further research in the area of verification of data is also necessary. Data must be verified for both completeness and accuracy.

Objectives: To compare caseloads of new patients assessed by paediatric cardiologists face-to-face or during teleconferences, and assess NHS costs for the alternative referral arrangements. Design: Prospective cohort study over 15 months. Setting: Four district hospitals in south-east England and a London paediatric cardiology centre. Patients: Babies and children. Intervention: A telecardiology service introduced alongside outreach clinics. Measurements: Clinical outcomes and mean NHS costs per patient. Results: 266 new patients were studied: 75 had teleconsultations (19 of 42 newborns and 56 of 224 infants and children). Teleconsultation patients generally were younger (49% being under 1 year compared with 32% seen personally (p = 0.025)) and their symptoms were not as severe. A cardiac intervention was undertaken immediately or planned for five telemedicine patients (7%) and 30 conventional patients (16%). However, similar proportions of patients were discharged after being assessed (32% telemedicine and 39% conventional). During scheduled teleconferences the mean duration of time per patient in sessions involving real-time echocardiography was 14.4 min, and 8.5 min in sessions where pre-recorded videos were transmitted. Mean cost comparisons for telemedicine and face-to-face patients over 14-day and 6-month follow-up showed the telecardiology service to be cost neutral for the three hospitals with infrequently-held outreach clinics (£1519 vs £1724 respectively after 14 days). Conclusion: Paediatric cardiology centres with small cadres of specialists are under pressure to cope with ever-expanding caseloads of new patients with suspected anomalies. Innovative use of telecardiology alongside conventional outreach services should suitably, and economically, enhance access to these specialists.

Banding the pulmonary trunk may exacerbate or promote the development of subaortic stenosis in patients with double inlet ventricle or tricuspid atresia with a dominant left ventricle and discordant ventriculoarterial connection and, therefore, may be an inappropriate palliative procedure for such patients. To examine this possibility, 102 consecutive infants were studied who presented with this anatomy between 1972 and 1987. Obstruction of the aortic arch was present in 52 patients. In 28 patients (17 with aortic arch obstruction), subaortic stenosis was already apparent at presentation. Of the remaining 74 patients, 19 received no palliative surgery and 55 underwent banding of the pulmonary trunk either with (n = 22) or without (n = 33) aortic arch repair. Outcome was significantly worse in patients with associated aortic arch obstruction. All such patients either died or developed subaortic stenosis by 3 years of age (survival free of subaortic stenosis 0 of 22 versus 22 of 33 for patients with isolated banding of the pulmonary trunk, p less than 0.001). After isolated banding, there was a lower ratio of the ventricular septal defect to ascending aorta diameters at presentation in the patients who developed subaortic stenosis than in the patients who did not (0.60 +/- 0.08 versus 1.03 +/- 0.15, p less than 0.001). Of the latter, 18 (95%) of 19 patients fulfilled criteria for a Fontan procedure at recatheterization. Thus, the presence of aortic arch obstruction is associated with rapid development of subaortic stenosis after banding of the pulmonary trunk. Alternative initial surgery, even though high risk, may be indicated. In the absence of such obstruction, banding the pulmonary trunk can be performed at reasonable risk and, provided that the ventricular septal defect is of adequate size, satisfactorily prepares most patients for a later Fontan procedure.

The hypoplastic left heart syndrome encompasses a spectrum of cardiac malformations that are characterized by significant underdevelopment of the components of the left heart and the aorta, including the left ventricular cavity and mass. At the severe end of the spectrum is found the combination of aortic and mitral atresia, when the left ventricle can be close to non-existent. At the mild end are the patients with hypoplasia of the aortic and mitral valves, but without intrinsic valvar stenosis or atresia, and milder degrees of left ventricular hypoplasia. Although the majority of the patients are suitable only for functionally univentricular repair, a small minority may be candidates for biventricular repair. The nature of the syndrome was a topic for discussion at the second meeting of the International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, the Nomenclature Working Group, held in Montreal, Canada, over the period January 17 through 19, 2003. Subsequent to these discussions, the Nomenclature Working Group was able to create a bidirectional crossmap between the nomenclature initially produced jointly on behalf of the European Association for Cardio-Thoracic Surgery and the Society of Thoracic Surgeons, and the alternative nomenclature developed on behalf of the Association for European Paediatric Cardiology. This process is a part of the overall efforts of the Nomenclature Working Group to create a comprehensive and all-inclusive international system of nomenclature for paediatric and congenital cardiac disease, the International Paediatric and Congenital Cardiac Code. In this review, we discuss the evolution of nomenclature and surgical treatment for the spectrum of lesions making up the hypoplastic left heart syndrome and its related malformations. We also present the crossmap of the associated terms for diagnoses and procedures, as recently completed by the Nomenclature Working Group.

The proteins, spectrin and 4.1 confer support and resilience to animal cell membranes, and promote assembly of multimeric, membrane-bound signalling complexes. Protein 4.1 also plays important roles in tumour suppression and the regulation of cell proliferation. To assess relative tissue expression of the four genes encoding human protein 4.1, we measured mRNA levels using quantitative real-time polymerase chain reaction. We compared 4.1 expression with that of a major splice variant of spectrin, betaIISigma2 that has a shortened C-terminus lacking a pleckstrin homology domain. mRNA for 4.1R is four-fold higher in bone marrow than in tissues with the next highest prevalence: cerebellum, lung, testis and thymus. 4.1G mRNA is highly expressed in brain, spinal cord and testis; 4.1N in brain, spinal cord and adrenal gland; 4.1B in testis, brain, spinal cord, and kidney. Thus, 4.1N, 4.1B and 4.1G all show high accumulation in nervous tissues. mRNA for betaIISigma2-spectrin is ubiquitous, but most abundant in cardiac and nervous tissues. Comparative transcript abundance was analysed in heart and brain. betaIISigma2-spectrin was the most abundant transcript in heart with levels 5 fold greater than 4.1G or 4.1N and at least 9 fold greater than 4.1B. In brain, 4.1N was the most abundant transcript, with levels 2.4 fold greater than 4.1B and at least 4 fold greater than 4.1G or betaIISigma2-spectrin. 4.1R abundance was very low in both tissues. Whilst we expected that 4.1 mRNAs would feature highly in muscle and nerve, we note their high abundance in testis, indicating previously unsuspected functions in reproduction.

OBJECTIVE--To develop, test, and validate an algorithm for diagnosing disease in neonates during an over the telephone referral to a specialist cardiac centre. DESIGN--A draft algorithm requiring only data available to a referring paediatrician was generated. This was modified in the light of a retrospective review of case records. A questionnaire to elicit all the data required by the algorithm was then generated. There followed a prospective three phase evaluation during consecutive over the telephone referrals. This consisted of (a) a conventional phase with unstructured referral consultations, (b) a phase with referrals structured around the questionnaire but independent of the algorithm, and (c) a validation phase with the algorithm (and its previous errors) available during the referral consultation. SETTING--59 paediatric centres in south east England and a central specialist paediatric cardiology unit. PATIENTS--Consecutive neonates (aged less than 31 days) referred with suspected heart disease. The retrospective review was of records of 174 neonates from 1979. In the prospective evaluation (1987-90) the conventional phase comprised 71 neonates (over 5.5 months), the structured phase 203 neonates (over 14 months), and the validation phase 195 neonates (over 12 months). MAIN OUTCOME MEASURES--Diagnostic accuracy (assigning patients to the correct diagnostic category (out of 27)), of the referring paediatrician, the specialist after the referral consultation, and the algorithm as compared with the definitive diagnosis by echocardiography at the specialist centre, and score for the appropriateness of management in transit. RESULTS--Simply structuring the consultation by questionnaire (that is, proceeding from the conventional phase to the structured phase) improved the diagnostic accuracy of both paediatricians (from 34% (24/71 cases) to 48% (97/203) correct) and specialists (from 54% (38/71 cases) to 64% (130/203) correct). The algorithm (structured phase) would have been even more accurate (78% (158/203 cases); p less than 0.01). Management scores in the structured phase were also better than in the conventional phase (80%(162/203 cases)v 58% (41/71) appropriate; p less than 0.01). Management scores would have improved to 91% appropriate (185/203; p less than 0.001) had the algorithmic diagnoses dictated management. The superiority of the algorithm was maintained but not bettered in the validation phase. CONCLUSIONS--Applying the algorithm should reduce the morbidity and mortality of neonates with critical heart disease by aiding clinicians in therapeutic decisions for in transit care.

Three paediatric cardiologists assessed nearly 1000 imprecise subjective conditional probabilities for a simple belief network representing congenital heart disease, and the quality of the assessments has been measured using prospective data on 200 babies. Quality has been assessed by a Brier scoring rule, which decomposes into terms measuring lack of discrimination and reliability. The results are displayed for each of 27 diseases and 24 questions, and generally the assessments are reliable although there was a tendency for the probabilities to be too extreme. The imprecision allows the judgements to be converted to implicit samples, and by combining with the observed data the probabilities naturally adapt with experience. This appears to be a practical procedure even for reasonably large expert systems.

Precise non-invasive localisation of the site of a small ventricular septal defect was attempted using a new technique that simultaneously combines conventional cross sectional echocardiography with a Doppler system by superimposing the colour coded direction and velocity of blood flow directly on to real time ultrasound images. Twenty three patients with unoperated ventricular septal defects and a further eight after surgical closure were studied; 12 children with normal hearts served as controls. A colour coded blood flow jet entering the right ventricle during systole was identified in all 23 unoperated patients, in 11 of whom the defect was too small to be visualised by conventional cross sectional echocardiography. The colour Doppler technique precisely located 19 perimembranous and five trabecular defects (one patient had two defects). Five of the postoperative patients were without clinical evidence of a significant shunt but had pansystolic murmurs. In each of these five, trans-septal shunt blood flow as demonstrated by colour Doppler images whereas in only three of these patients was the residual defect large enough to be visualised by conventional cross sectional echocardiography. Three postoperative patients had no murmurs and showed no residual shunt on colour Doppler images. This was confirmed at cardiac catheterisation. There were no false positive results among the controls. This technique is useful for the more accurate diagnosis and location of ventricular septal defects and may help in assessing their natural or surgical closure.

If cross sectional echocardiography in isolation is used to diagnose critical left ventricular outflow obstruction in neonates, false positive and false negative diagnoses may result. Continuous wave Doppler velocimetry was used to measure blood flow velocity in the ascending and descending thoracic aorta in six neonates (aged less than 6 weeks) presenting with reduced or absent peripheral pulses in order to determine the important sites of obstruction. This technique demonstrated abnormal high velocity blood flow jets (three times higher than normal) in the ascending aorta in three patients with normal descending aortic flow velocity, suggesting aortic stenosis. In the other three patients velocity in the ascending aorta was normal but high in the descending aorta, suggesting coarctation. The Doppler diagnosis was confirmed in the five patients who required surgery. Two patients had residual high velocity jets after aortic valvotomy. Both had significant pressure gradients across the aortic valve at cardiac catheterisation with good agreement between actual gradients and those predicted by the Doppler technique. Thus a combined anatomical and physiological approach using cross sectional echocardiography and continuous wave Doppler velocimetry enables accurate non-invasive definition of the site of left ventricular outflow obstruction and may obviate the need for invasive investigation in these sick neonates.

Left ventricular wall stress and contractile function were determined by echocardiographic methods in 11 patients studied 0.7 to 13.8 years (mean +/- standard error of the mean = 5.6 +/- 1.2 years) after undergoing the Rastelli operation for transposition of the great arteries associated with ventricular septal defect and left ventricular outflow tract obstruction. Age at operation ranged from 4.6 to 11.3 years (mean +/- standard error of the mean = 7.4 +/- 0.7 years). Data were compared with data of 24 normal subjects of similar age and heart rate. Left ventricular end-diastolic dimension and end-diastolic volume were significantly higher than normal, averaging 134% +/- 8% of normal dimension (p less than 0.004) and 106 +/- 13 ml/m2 versus a normal volume of 60 +/- 3 ml/m2) (p less than 0.007). In addition left ventricular wall mass was 215 +/- 40 gm/m2 versus a normal value of 72 + 6 gm/m2 (p less than 0.004). Both meridional and circumferential end-systolic and peak systolic stress values were not significantly different between normal subjects and Rastelli patients. Estimates of ventricular pump function including shortening fraction, rate-corrected velocity of circumferential fiber shortening, and ejection fraction were all depressed when compared with normal values. Velocity of fiber shortening, evaluated as a function of end-systolic stress, demonstrated abnormal contractile function in eight of 11 (73%) patients. These data indicate that left ventricular function is usually abnormal and residual left ventricular dilation and wall hypertrophy remain despite successful use of the Rastelli operation for repair in patients with transposition of the great arteries, ventricular septal defect, and left ventricular outflow tract obstruction.

Background: Pediatric patients with heart disease (HD) have lower quality of life (QOL) and often experience psychosocial morbidity. The purpose of this study was to explore the relationships between HD complexity, QOL, and psychosocial morbidity factors [family functioning and parental stress, and patient and parent post-traumatic stress (PTS) and trait anxiety]. Methods: Patients (age 8-18 years) and their parents at 6 cardiac centers in the United States and England completed: QOL [Pediatric Cardiac Quality of Life Inventory (PCQLI)], family functioning (Family Environment Scale), parental stress (Pediatric Inventory for Parents), PTS (Parent Posttraumatic Diagnostic Scale and Child Post-traumatic Stress Disorder Symptom Scale), and trait anxiety (Parent Spielberger Trait Anxiety Inventory and Revised Children’s Manifest Anxiety Scale) questionnaires. Complexity categories (High and Low) were created based on the clinical characteristics of the underlying HD. Path analysis was used to assess the direct and indirect effects (correlation) of complexity on PCQLI Psychosocial Impact (PI) score as mediated by family functioning, parental stress, PTS, and trait anxiety while controlling for patient age, sex, time since diagnosis, and parental education. A p-value < 0.05 was considered signiicant. Results: A total of 815 patient-parent pairs participated (Complexity: High n=626 and Low n=189); mean patient age 12.5 ± 1.5 years and patient and parent sex (57% and 14% male). 56% of parents had some college education. Mean time since diagnosis was 10.6 ± 3.5 years. High complexity was associated with a lower PCQLI PI score (p