Search

Objective: To evaluate the effectiveness of the transition program for adolescents with congenital heart disease (CHD) 'Transition With a Heart' (TWAH) on disease-related knowledge, quality of life (QoL), transition experiences, and gaps in follow-up., Methods: A study with pre-posttest and control group (post-test) using consecutive sampling, including adolescents with moderate to severely complex CHD, without intellectual disability, aged≥ 12 y, and parents. After weighting, t-tests were performed. A multivariable regression analysis explored the outcomes' determinants., Results: In the intervention group, 28 adolescents and 25 parents were included, and 53 adolescents and 18 parents as controls. Adolescents' knowledge significantly increased after completing TWAH (from 59.8% to 75.7%;p < 0.01). Their knowledge was positively correlated with TWAH (β = +13.3;p < 0.01). Adolescents' transition experiences were also positively related to TWAH (general experience: β = +5.5;p < 0.01; transfer satisfaction: β = +0.8; p < 0.01). Adolescents' QoL was mainly determined by CHD complexity and not by TWAH. No one showed gaps in follow-up. TWAH was not associated with parents' transition experiences., Conclusion: Implementing TWAH substantially improved adolescents' disease-related knowledge and transition experiences., Practice Implications: The results regarding transition experiences need to be confirmed by further research. The TWAH design with the person-tailored educational program, skills training, and the transition coordinator can be used in settings with other chronic diseases., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Objectives: The aim of this study was to evaluate the relationship between atrioventricular valve and ventricular function in Fontan survivors, including the effect of atrioventricular valve surgery., Methods: Analysis focused on transplant-free survival and the need for atrioventricular valve surgery in single ventricle patients after Fontan completion. Longitudinal echocardiographic examination of long-term valve and ventricular function was performed., Results: Fontan completion was performed in 113 patients, having a right univentricular morphology in 33.6%, a left ventricle morphology in 62.8% and ambiguous in 3.6%. Perioperative mortality was 2.7% (n = 3). Within a median follow-up of 16.3 years (interquartile range 10.6-23.6), transplant-free survival was 96.1 ± 1.9% and 90.4 ± 5.8% at 10-25 years. Twenty AV valve procedures were performed in 14 (12.4%) children, respectively, pre-Fontan (n = 10), per-Fontan (n = 8) and post-Fontan (n = 2), resulting in a cumulative incidence of AV valve surgery is 5.7 ± 2.2% and 12.3 ± 3.2% at 1-5 years. Atrio-ventricular valve function deteriorated over time [hazard ratio (HR) 1.112, 95% confidence interval (CI) 1.089-1.138, P < 0.001], without difference for valve morphology (P = 0.736) or ventricular dominance (P = 0.484). AV valve dysfunction was greater in patients requiring AV valve surgery (HR 20.383, 95% CI 6.223-36.762, P < 0.001) but showed a comparable evolution since repair to those without valve surgery (HR 1.070, 95% CI 0.987-1.160, P = 0.099). Progressive time-related ventricular dysfunction was observed (HR 1.141, 95% CI 1.097-1.182, P < 0.001), significantly less in left ventricle-dominance (HR 0.927, 95% CI 0.860-0.999, P = 0.047) but more after AV valve surgery (HR 1.103, 95% CI 1.014-1.167, P = 0.022)., Conclusions: In a homogeneously treated Fontan population, 25-year transplant-free survival is encouraging. Atrio-ventricular valve surgery was necessary in 12.4%, resulting mostly in a durable valve function. However, a slow time-related decline of atrioventricular valve function as of ventricular function is worrisome, evoking a role for additional heart failure therapy., (© The Author(s) 2023. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Purpose: The transition towards adult-focused healthcare comprises a complex process requiring careful, individualized guidance of adolescents with congenital heart disease (CHD). Detailed data on their preferences regarding disease-related information and acquirable transitional skills are mostly lacking. We examined the preferences of CHD adolescents in the early transition stage., Methods: A cross-sectional descriptive study was performed with adolescents recruited from a transition program. Two questionnaires assessing needs for information and transitional skills were used. Only questionnaires completed in the early transition stage were included., Results: Forty-nine adolescents participated (mean age 15.9 ± 1.2 years, 43% girls). 59% requested information about their heart and previous and/or future surgeries/interventions, 45% about sports and medication, and a maximum of 27% about psychosocial topics. More girls than boys requested surgical information (76% versus 46%; p = 0.04). Adolescents with severely complex CHD more often requested information about medication than those with moderately complex CHD (63% versus 28%; p = 0.02). Older adolescents were less likely to request surgical information (OR = 0.53; 95%CI [0.26-0.88]; p = 0.03). Up to 83% of the adolescents perceived their skills as insufficient, but less than 14% was interested in acquiring skills.    Conclusion: Adolescents were mainly interested in medical topics, followed by lifestyle information. The informational needs tended to decrease with age. Timely gauging individual needs and delivering information, ideally in the early teens, appear important when providing person-tailored transitional care in CHD. Paradoxically, although the transitional skills were low-perceived, there was limited motivation to improve them. This paradox requires further investigation to better tailor transition interventions.     Clinical trial registration: Not applicable., What Is Known: • Transition towards adult life and care requires careful patient guidance. A person-tailored approach is strongly encouraged. However, details on preferences regarding disease-related information and transitional skills are scarce in adolescents with CHD., What Is New: • This study showed that adolescents with CHD in early transition mainly need medical-related information. Their informational needs tend to decrease with age necessitating timely gauging for interest and delivering information. Adolescents report a low need to acquire transitional skills despite low self-esteemed skills levels., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Aims: Although life expectancy in adults with congenital heart diseases (CHD) has increased dramatically over the past five decades, still a substantial number of patients dies prematurely. To gain understanding in the trajectories of dying in adults with CHD, the last year of life warrants further investigation. Therefore, our study aimed to (i) define the causes of death and (ii) describe the patterns of healthcare utilization in the last year of life of adults with CHD., Methods and Results: This retrospective mortality follow-back study used healthcare claims and clinical data from BELCODAC, which includes patients with CHD from Belgium. Healthcare utilization comprises cardiovascular procedures, CHD physician contacts, general practitioner visits, hospitalizations, emergency department (ED) visits, intensive care unit (ICU) admissions, and specialist palliative care, and was identified using nomenclature codes. Of the 390 included patients, almost half of the study population (45%) died from a cardiovascular cause. In the last year of life, 87% of patients were hospitalized, 78% of patients had an ED visit, and 19% of patients had an ICU admission. Specialist palliative care was provided to 17% of patients, and to only 4% when looking at the patients with cardiovascular causes of death., Conclusions: There is a high use of intensive and potentially avoidable care at the end of life. This may imply that end-of-life care provision can be improved. Future studies should further examine end-of-life care provision in the light of patient's needs and preferences, and how the healthcare system can adequately respond., Competing Interests: Conflict of interest: The authors declare that they have no conflict of interest regarding this article., (© The Author(s) 2022. Published by Oxford University Press on behalf of European Society of Cardiology.)

Congenital heart defects (CHD) are the most common congenital anomalies in liveborn children. In contrast to syndromic CHD (SCHD), the genetic basis of isolated CHD (ICHD) is complex, and the underlying pathogenic mechanisms appear intricate and are incompletely understood. Next to rare Mendelian conditions, somatic mosaicism or a complex multifactorial genetic architecture are assumed for most ICHD. We performed exome sequencing (ES) in 73 parent-offspring ICHD trios using proband DNA extracted from cardiac tissue. We identified six germline de novo variants and 625 germline rare inherited variants with 'damaging' in silico predictions in cardiac-relevant genes expressed in the developing human heart. There were no CHD-relevant somatic variants. Transmission disequilibrium testing (TDT) and association testing (AT) yielded no statistically significant results, except for the AT of missense variants in cilia genes. Somatic mutations are not a common cause of ICHD. Rare de novo and inherited protein-damaging variants may contribute to ICHD, possibly as part of an oligogenic or polygenic disease model. TDT and AT failed to provide informative results, likely due to the lack of power, but provided a framework for future studies in larger cohorts. Overall, the diagnostic value of ES on cardiac tissue is limited in individual ICHD cases.

Liver abnormalities are well known among long-term survivors of Fontan palliation, which remains the definite surgery for complex congenital heart disease and single ventricle physiology. Pediatric data however are scarce. We assessed the prevalence and degree of liver abnormalities in pediatric Fontan patients through non-invasive investigations suitable for longitudinal follow-up. Thirty-five patients with a median age of 11.8 years (5.2-16.6) and median time since Fontan of 6 years (1.17-13.83) were studied. Each child underwent a blood test, liver Doppler ultrasound (US), and transient elastography (TE). Healthy children were used as controls for TE measurement. AST, ALT, γGT, and direct bilirubin were abnormal in respectively 12 (34%), 5 (14%), 24 (69%), and 7 (20%) patients, while platelet count was decreased in 7 (20%). Splenomegaly was present in 7 (20%) patients. Portal vein mean flow velocity was < 15 cm/s in 19 (54%) patients indicative of portal hypertension. Twenty-two patients (63%) showed inferior vena cava collapsibility index values below 17%, indicating venous congestion. Hepatic artery and superior mesenteric artery resistance index were inversely correlated with time post Fontan (p < 0.05). TE values in Fontan patients were significantly higher than controls, with a median of 12.6 versus 4.6 kPa (p < 0.001) and were already increased shortly after Fontan completion. Conclusion: Liver abnormalities are frequently observed in pediatric Fontan patients. The non-invasive investigations used were not able to confirm liver fibrosis or differentiate hepatic congestion from fibrosis. Based on our findings, we propose a prospective screening protocol with serial measurements of laboratory, (Doppler) US, and TE parameters. What is Known: • Hepatic dysfunction is a well-known consequence of the Fontan circulation. • The natural history of Fontan-associated liver disease in the pediatric age group remains unclear. What is New: • Liver abnormalities are frequently observed in pediatric Fontan patients; however, differentiating liver fibrosis and hepatic congestion with non-invasive investigations remains challenging. Sonographic Doppler measurements may improve our insight in both Fontan-associated liver disease development and the functioning of the Fontan circulation. • A prospective screening protocol is proposed to improve our ability to detect Fontan-associated liver disease early on and understand its natural history., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Background: Influenza vaccination is the most commonly recommended immune prevention strategy. However, data on influenza vaccination in patients with congenital heart disease (CHD) are scarce. In this study, our goals were to: (1) measure vaccination coverage rates (VCRs) for influenza in a large cohort of children, adolescents, and adults with CHD; (2) identify patient characteristics as predictors for vaccination; and (3) investigate the effect of influenza vaccination on hospitalization., Methods: A nationwide cohort study in Belgium included 16,778 patients, representing 134,782 vaccination years, from the Belgian Congenital Heart Disease Database Combining Administrative and Clinical Data (BELCODAC). Data over 9 vaccination years (2006-2015) were used, and patients were stratified into 5 age cohorts: 6 months to 4 years; 5-17 years; 18-49 years; 50-64 years; and 65 years and older., Results: In the respective age cohorts, the VCR was estimated to be 6.6%, 8.0%, 23.9%, 46.6%, and 72.8%. There was a steep increase in VCRs as of the age of 40 years. Multivariable logistic regression showed that higher anatomical complexity of CHD, older age, presence of genetic syndromes, and previous cardiac interventions were associated with significantly higher VCRs. Among adults, men had lower and pregnant women had higher VCRs. The association between influenza vaccination and all-cause hospitalization was not significant in this study., Conclusions: The influenza VCR in people with CHD is low, especially in children and adolescents. Older patients, particularly those with complex CHD, are well covered. Our findings should inform vaccination promotion strategies in populations with CHD., (Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)

Aim: To scrutinize the economic impact of different care levels, such as shared care, in the follow-up of adult congenital heart disease (ACHD) patients., Methods: The BELgian COngenital heart disease Database combining Administrative and Clinical data (BELCODAC) was analyzed. Patients (N = 6579) were categorized into five care levels based on their cardiac follow-up pattern between 2006 and 2010. Medical costs, hospitalizations, and emergency department visits were measured between 2011 and 2015., Results: In patients with moderate lesions, highly specialized cardiac care (HSC; exclusive follow-up by ACHD specialists) and shared care with predominantly specialized cardiac care (SC+) were associated with significantly lower medical costs and resource use compared to shared care with predominantly general cardiac care (SC-) and general cardiac care (GCC). In the patient population with mild lesions, HSC was associated with better economic outcomes than SC- and GCC, but SC+ was not. HSC was associated with fewer hospitalizations (- 33%) and less pharmaceutical costs (- 46.3%) compared to SC+. Patients with mild and moderate lesions in the no cardiac care (NCC) group had better economic outcomes than those in the GCC and SC- groups, but post-hoc analysis revealed that they had a different patient profile than patients under cardiac care., Conclusion: More specialized care levels are associated with better economic outcomes in patients with mild or moderate lesions in cardiac follow-up. Shared care with strong involvement of ACHD specialists might be a management option to consider. Characteristics of patients without cardiac follow-up but good medium-term economic prospects should be further scrutinized., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Copy number variations (CNVs) can modulate phenotypes by affecting protein-coding sequences directly or through interference of gene expression. Recent studies in cancer and limb defects pinpointed the relevance of non-coding gene regulatory elements such as long non-coding RNAs (lncRNAs) and topologically associated domain (TAD)-related gene-enhancer interactions. The contribution of such non-coding elements is largely unexplored in congenital heart defects (CHD). We performed a retrospective analysis of CNVs reported in a cohort of 270 CHD patients. We reviewed the diagnostic yield of pathogenic CNVs, and performed a comprehensive reassessment of 138 CNVs of unknown significance (CNV-US), evaluating protein-coding genes, lncRNA genes, and potential interferences with TAD-related gene-enhancer interactions. Fifty-two of the 138 CNV-US may relate to CHD, revealing three candidate CHD regions, 19 candidate CHD genes, 80 lncRNA genes of interest, and six potentially CHD-related TAD interferences. Our study thus indicates a potential relevance of non-coding gene regulatory elements in CNV-related CHD pathogenesis. Shortcomings in our current knowledge on genomic variation call for continuous reporting of CNV-US in international databases, careful patient counseling, and additional functional studies to confirm these preliminary findings.

Background: Congenital heart disease (CHD) entails a broad spectrum of malformations with various degrees of severity and prognosis. Consequently, new and specific healthcare needs are emerging, requiring responsive healthcare provision. Research on this matter is predominantly performed on population-based databases, to inform clinicians, researchers and policy-makers on health outcomes and economic burden of CHD. Most databases contain data either from administrative sources or from clinical systems. We describe the methodological design of the BELgian COngenital Heart Disease Database combining Administrative and Clinical data (BELCODAC), to investigate patients with CHD., Methods: Data on clinical characteristics from three university hospitals in Belgium (Leuven, Ghent and Brussels) were merged with mortality and socio-economic data from the official Belgian statistical office (StatBel), and with healthcare use data from the InterMutualistic Agency, an overarching national organization that collects data from the seven sickness funds for all Belgian citizens. Over 60 variables with multiple entries over time are included in the database., Results: BELCODAC contains data on 18,510 patients, of which 8926 patients (48%) have a mild, 7490 (41%) a moderately complex and 2094 (11%) a complex anatomical heart defect. The most prevalent diagnosis is Ventricular Septal Defect in 3879 patients (21%), followed by Atrial Septal Defect in 2565 patients (14%)., Conclusions: BELCODAC comprises longitudinal data on patients with CHD in Belgium. This will help build evidence-based provision of care to the changing CHD population., (Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.)

Thanks to advances in care, most children with congenital heart disease nowadays survive into adulthood. The majority of patients remain at high risk for future complications. Hence, life-long follow-up is mandatory. Care needs of patients evolve, especially when reaching adulthood. A structured transition period to adult care is advocated. Currently, a fully detailed and structured transition program is not available for patients with congenital heart disease. The aim is to describe the development and design of a multicomponent transition program for adolescents with congenital heart disease, called "Transition with a heart." Transition with a heart was developed based on the Dutch program "On your own feet," starting at the age of 12 years and continuing after transfer. The most vital core components include a general and individualized flowchart, adolescent-centered communication, a joined transfer consultation, and an appointed transition coordinator. Adolescents are gradually informed about their condition and potential late consequences in adult life and stimulated to take medical care in their own hands.Conclusion: Transition with a heart is a practical, multicomponent, comprehensive transition program developed to cover the essential aspects of transitional care for adolescents with congenital heart disease (i.e., continuity of care, disease knowledge, and self-management skills). Interventions were selected from the highest sources of scientific evidence currently available.Clinical trial registration: Not applicableWhat is Known:• Transition towards adult life and health care is a complex process, requiring careful patients' guidance. Various task forces have described the need and potential benefits of transition programs in young people with chronic conditions. Details about the practical development and content of such programs in congenital heart disease are, however, currently lacking.What is New:• This method paper presents the development and design of a person-centered multicomponent transition program for adolescents with congenital heart disease comprising interventional components covering the most important aspects of transitional care: promoting autonomy, disease knowledge, and continuity of care.

Objectives: Downsizing a homograft (HG) through bicuspidalization has been used for more than 2 decades to overcome the shortage of small-sized conduits for reconstruction of the right ventricular outflow tract (RVOT) in young children. Our goal was to investigate the durability of bicuspidalized HGs compared with other small HGs., Methods: A retrospective analysis of 93 conduits ≤20 mm, implanted over 23 years, was performed. The end-points were survival, structural valve degeneration and conduit replacement. The conduits comprised 40 pulmonary HGs, 12 aortic HGs, 17 bicuspidalized HGs and 24 xenografts., Results: The median age, mean conduit diameter and z-value at implantation were 1.4 (interquartile range 0.3-3) years, 16.5 ± 2.7 mm and 2.8 ± 1.3, respectively. Valve position was heterotopic in 59 patients and orthotopic in 34 patients. At a mean follow-up period of 7.6 ± 5.9 years, the hospital survival rate was 89%. Freedom from explant at 5 and 10 years was 83 ± 5% and 52 ± 6%, respectively. Freedom from structural valve degeneration was 79 ± 5% at 5 years and 47 ± 6% at 10 years [68 ± 8% for pulmonary HG, 42 ± 16% for bicuspidalized HG, 31 ± 15% for aortic HG and 20 ± 9% for xenografts (log rank P < 0.001)]. Multivariable analysis indicated an increased risk for structural valve degeneration with smaller conduit size (hazard ratio 0.79, 95% confidence interval 0.67-0.94; P < 0.008), extra-anatomic position (hazard ratio 2.71, 95% confidence interval 1.33-5.50; P = 0.006) and the use of xenografts compared with non-downsized pulmonary HGs (hazard ratio 4.90, 95% confidence interval 2.23-10.76; P < 0.001)., Conclusions: Appropriately sized pulmonary HGs remain the most durable option for a right ventricular outflow tract conduit in young children. However, when a small pulmonary HG is unavailable, bicuspidalization offers a valid alternative, preferable to xenograft conduits, at mid-term follow-up., (© The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Objective: Determine prenatal detection rate, mortality and association with genetic abnormalities in patients with severe CHD., Method: Single center retrospective study in patients with severe CHD diagnosed prenatally or postnatally (2006 to 2014)., Results: A total of 567 patients were included, 176 (31%) after prenatal diagnosis, with large differences in prenatal detection rate among CHD types. Coarctation (24%), tetralogy of Fallot (21%) and univentricular heart (19%) were the most prevalent CHD. Overall mortality rate was 30% with important contributions of prenatal mortality including termination of pregnancy (40%) and postnatal compassionate care (15%). In the group requiring surgery, mortality rate was 12%. Genetic testing was available in 70%. A genetic cause was present in 140/394 patients tested (36%; 25% in the total group). Mortality was higher in the group with abnormal genetic testing compared with those with normal or no genetic testing (57/141 vs 112/423; p = 0,002)., Conclusion: Only one third of severe CHD are detected; overall mortality remains high (30%) with major contributions of termination of pregnancy and compassionate care. A genetic cause was found in 36% and was associated with a decreased survival. Counseling must include the possibility of associated genetic pathology and its impact on survival. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Objectives: The bi-directional cavopulmonary anastomosis forms an essential staging procedure for univentricular hearts. This review aims to identify risk factors for morbidity, mortality, and suitability for Fontan completion., Methods: A total of 114 patients undergoing cavopulmonary anastomosis between 1992 and 2012 were reviewed to assess primary - mortality and survival to Fontan completion - and secondary outcome endpoints - re-intubation, new drain, and ICU stay. Median age and weight were 8 months and 6.9 kg, respectively. In 83% of patients, 1-3 interventions had preceded. Norwood-type procedures became more prevalent over time., Results: Extubation occurred after a median of 4 hours, median ICU stay was 2 days; 10 patients (8.8%) needed re-intubation and 18 received a new drain. Higher central venous pressure and transpulmonary gradient were risk factors for new drain insertion (p<0.01). Higher pre-operative pulmonary pressure correlated with increased inotropic support and prolonged intubation (p=0.01). Need for re-intubation was significantly affected by younger age at operation (p=0.01). Hospital and pre-Fontan mortality were 11.4 and 5.3%, respectively. Operative mortality was independently affected by younger age (p=0.013), lower weight (p=0.02), longer bypass time (p=0.04), and re-intubation (p=0.004). Interstage mortality was mainly influenced by moderate ventricular function (p=0.03); 82% of survivors underwent or are candidates for Fontan completion., Conclusion: The cavopulmonary anastomosis remains associated with adverse outcomes. Age at operation decreases with rising prevalence of complex univentricular hearts. Considering the important impact of re-intubation on hospital mortality, peri-operative management should focus on optimising cardio-respiratory status. Once this selection step is taken, successful Fontan completion can be expected, provided that ventricular function is maintained.

Background: Albeit being a simple surgical procedure, adverse outcomes with the modified Blalock-Taussig shunt (MBTS) are commonly reported in generalizing terms, independent of the underlying heart disorder., Methods: From August 1995 to December 2013, a total of 150 children underwent an MBTS for tetralogy of Fallot (TOF; n = 44, 29%), pulmonary atresia with ventricular septal defect (PA/VSD; n = 28, 19%), pulmonary atresia with intact ventricular septum (PA/IVS; n = 17, 11%), transposition of the great arteries with ventricular septal defect (TGA/VSD) with pulmonary stenosis (PS; n = 12, 8%), Ebstein malformation (n = 2, 1%), and complex univentricular anomalies (n = 47, 31%). Outcome analysis focused on operative mortality and survival until shunt takedown, adjusted to the underlying disease., Results: In-hospital mortality was 8.7% (n = 13), and interstage mortality was 5.1% (n = 7), resulting in 86.1% survival to the next surgery. Hospital mortality was 14% in PA/VSD, 13% in univentricular heart, and 18% in PA/IVS, while no mortality was observed in TOF, TGA/VSD/PS, and Ebstein disease. A shunt-related complication was observed in 18% (n = 27) of the children, including acute thrombosis (n = 7, 5%), shunt stenosis (n = 3, 2%), overshunting (n = 7, 5%), and pulmonary artery stenosis (n = 10, 7%). Multivariate analysis of shunt-dependent time survival identified a shunt complication occurring in a univentricular circulation (hazard ratio [HR] 4.10, 95% confidence interval [CI] = 1.05-17.43, P = .01) and increased shunt size-to-weight ratio (HR 2.72, 95% CI = 0.80-9.18, P = .04) as risk factors. Shunt thrombosis was also a negative outcome predictor in PA/VSD, when requiring associated unifocalization (P = .05)., Conclusion: This study shows that the outcome of palliation with the MBTS is importantly affected by the occurrence of a shunt-related complication, whose circulatory effect is even more dismal in single ventricle hearts. Since an increased shunt size-to-weight ratio additionally compromises the shunt-dependent survival, it emphasizes that the choice of the shunt with regard to size as well as surgical approach remains critical., (© The Author(s) 2014.)

Context: The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY., Objective: To investigate cardiovascular abnormalities in 45,X/46,XY males and to compare them with 45,X/46,XY females., Design: Patients with 45,X/46,XY mosaicism were selected from the Belgian Registry for Growth and Puberty problems and via the multidisciplinary clinic for disorders of sexual development., Patients: EIGHTEEN PATIENTS WERE INCLUDED: 8 raised as females (F) and 10 as males (M)., Intervention: Complete cardiac examination with blood pressure measurement, ECG, echocardiography and MRI., Main Outcome Measurement: Cardiac parameters were registered for both groups. In a second phase, clinical features and external masculinisation score (EMS) were retrospectively collected from the medical files., Results: A structural heart defect was diagnosed before inclusion in 1 F with coarctation and 1 M with spontaneously closed VSD. A bicuspid aortic valve was found in 8 (3 F, 5 M). Dilation of the ascending aorta was present in 4 M and was severe in 2 young boys. QTc was prolonged in 3 F and 2 M., Conclusion: Males with 45,X/46,XY mosaicism have similar cardiovascular pathology as 45,X/46,XY females. Dilation of the ascending aorta can be important, also in males. We advise cardiac screening and life-long monitoring in all males with 45,X/46,XY mosaicism according to the existing guidelines for Turner syndrome.

In a retrospective study of 32 consecutive patients undergoing a total cavopulmonary connection (TCPC), we tried to determine if the trend for decreasing age at Fontan completion and reducing the intervals between the staged procedures during the past decade was associated with a change in morbidity and outcome. In 8 patients the Fontan circulation was completed in one stage and in 24 patients an intermediate step by hemi-Fontan or bidirectional cavopulmonary anastomosis was performed before Fontan completion. Mean age at TCPC and mean interval since the previous palliation have decreased significantly during the past decade. Although major complications were significantly reduced over time the occurrence and duration of postoperative pleural effusions were not. Decreasing age as well as intervals in staged Fontan palliation have beneficial influence on major complications and outcome, without significantly affecting the duration of pleural effusions at Fontan completion.

Background: From June 1995 to January 2003, 49 consecutive neonates of less than 2,500 g underwent early surgery for congenital heart disease. A retrospective analysis was performed to evaluate the early to medium term outcome., Methods: Major cardiac surgery for congenital heart defects included a complete correction in 31 patients (group I) and a palliative procedure in 18 patients (group II). Mean age at operation was 15.2 days (1 day-90 days) and mean weight was 2,190 g (1,300 g-2,500 g). Twenty-four children (49%) were born prematurely. All neonates were critically ill and 47% were already ventilated preoperatively. Heart defects included mainly ventricular septal defect (10), tetralogy of Fallot complexes (8), aortic coarctation (8), transposition complexes (7), single ventricle anomalies (4), pulmonary atresia with intact septum (4), interrupted aortic arch (3), totally anomalous pulmonary venous return (3), and common atrioventricular septal defect (2)., Results: Overall surgical mortality was 18%: 4 neonates died after definitive repair and 5 after palliation; representing, respectively, 13% and 28% of each group. Postoperative morbidity occurred in half of the patients (53%). Age, weight, prematurity, type of first surgical procedure, and use of cardiopulmonary bypass did not influence the early outcome. After a mean follow-up of 2.82 years (2 months to 6 years), survival was 87% in the correction group and 54% in the palliation group. All children were in NYHA class I-II. Freedom from reintervention at 18 months was 68% after correction versus 8% after palliation., Conclusions: Cardiac surgery for congenital malformations in critically ill, low weight neonates can be achieved with acceptable mortality, at the cost of an increased morbidity. Early outcome seems independent of age, weight, prematurity, use of extracorporeal perfusion, and type of first intervention. Moreover, primary correction appears to result in an early survival benefit, remaining constant over time.