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Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe double-outlet right ventricle with mitral atresia and aortic arch hypoplasia in an infant with WS. This case demonstrates the difficulty in managing patients with WS with complex cardiac defects. To our knowledge, this is the first reported single-ventricle physiology in a patient with WS. (Level of Difficulty: Advanced.), Graphical abstract, Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe…

Background Infants with heart failure remain at significant risk for wait list mortality, despite mechanical circulatory support (MCS). It is unclear if the outcomes are influenced by modality of support or underlying diagnosis. We sought to compare the outcomes of infants Methods and Results Using the Pediatric Heart Transplant Society database, we evaluated survival following first MCS device in children P =0.2; 5.4% versus 6.4%; P =0.4). However, there was a significant difference in the use of VAD both at listing (8% versus 2.4%; P P P P =0.01) for the CHD or the cardiomyopathy group ( P =0.38), but patients with cardiomyopathy demonstrated better survival on both forms of support. Conclusions Survival for patients

ObjectiveTo enhance the understanding of cardiovascular care delivery in childhood cancer patients and survivors.Study designA 20-question survey was created by the Pediatric Cardio-oncology Work Group of the American College of Cardiology (ACC) Cardio-oncology Section to assess the care, management, and surveillance tools utilized to manage pediatric/young adult cardio-oncology patients. The survey distribution was a collaborative effort between Cardio-oncology Section and membership of the Adult Congenital and Pediatric Cardiology Section (ACPC) of the ACC.ResultsSixty-five individuals, all self-identified as physicians, responded to the survey. Most respondents (n = 58,89%) indicated childhood cancer patients are regularly screened prior to and during cancer therapy at their centers, predominantly by electrocardiogram (75%), standard echocardiogram (58%) and advanced echocardiogram (50%) (i.e. strain, stress echo). Evaluation by a cardiologist prior to/during therapy was reported by only 8(12%) respondents, as compared to post-therapy which was reported by 28 (43%,p n = 31,48%) and history of chemotherapy exposure (n = 27,42%). Of note, during post-treatment counseling, common cardiovascular risk-factors like blood pressure (31,48%), lipid control (22,34%), obesity & smoking (30,46%) and diet/exercise/weight loss (30,46%) were addressed by fewer respondents than was LV function (72%).ConclusionsThe survey data demonstrates that pediatric cancer patients are being screened by EKG and/or imaging prior to/during therapy at most centers. Our data, however, highlight the potential for greater involvement of a cardiovascular specialist for pre-treatment evaluation process, and for more systematic cardiac risk factor counseling in posttreatment cancer survivors.

Williams syndrome (WS) is an arteriopathic derangement most often associated with supravalvular aortic stenosis and branch pulmonary artery stenosis. WS has also been reported in conjunction with several types of congenital heart disease. We report a unique case of double outlet right ventricle with

Background— Pediatric data on the impact of pre–heart transplantation (HTx) risk factors on early post-HTx outcomes remain inconclusive. Thus, among patients with previous congenital heart disease or cardiomyopathy, disease-specific risk models for graft loss were developed with the use pre-HTx recipient and donor characteristics. Methods and Results— Patients enrolled in the Pediatric Heart Transplant Study (PHTS) from 1996 to 2006 were stratified by pre-HTx diagnosis into cardiomyopathy and congenital heart disease cohorts. Logistic regression identified independent, pre-HTx risk factors. Risk models were constructed for 1-year post-HTx graft loss. Donor factors were added for model refinement. The models were validated with the use of patients transplanted from 2007 to 2009. Risk factors for graft loss were identified in patients with cardiomyopathy (n=896) and congenital heart disease (n=965). For cardiomyopathy, independent risk factors were earlier year of transplantation, nonwhite race, female sex, diagnosis other than dilated cardiomyopathy, higher blood urea nitrogen, and panel reactive antibody >10%. The recipient characteristic risk model had good accuracy in the validation cohort, with predicted versus actual survival of 97.5% versus 95.3% (C statistic, 0.73). For patients with congenital heart disease, independent risk factors were nonwhite race, history of Fontan, ventilator dependence, higher blood urea nitrogen, panel reactive antibody >10%, and lower body surface area. The risk model was less accurate, with 86.6% predicted versus 92.4% actual survival, in the validation cohort (C statistic, 0.63). Donor characteristics did not enhance model precision. Conclusions— Risk factors for 1-year post-HTx graft loss differ on the basis of pre-HTx cardiac diagnosis. Modeling effectively stratifies the risk of graft loss in patients with cardiomyopathy and may be an adjunctive tool in allocation policies and center performance metrics.

Since the 1995 publication of its Core Cardiovascular Training Statement (COCATS),1 the American College of Cardiology (ACC) has played a central role in defining the knowledge, experiences, skills, and behaviors expected of all clinical cardiologists upon completion of training. Subsequent updates have incorporated major advances and revisions—both in content and structure—including, most recently, …

Objectives Children with congenital heart disease may experience significant psychosocial morbidity related to impaired quality of life (QOL). The aim of this study was to evaluate the clinical utility of health-related QOL assessment in a pediatric cardiology outpatient clinic. Design The Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales were completed by a convenience sample of 176 patients, aged 8–18 years, being seen in a pediatric cardiology clinic. Three cardiologists enrolled in this study reviewed the completed PedsQL during the clinic visit and recorded their responses to items reported to be a problem “Often” or “Almost Always.” This utilization of the instrument was compared to standardized scoring and the practicality and perceived usefulness of the practice was evaluated by physician interview. Results PedsQL responses showed 38% of patients reporting significant (Often or Almost Always) problems on at least one domain (19% Physical Functioning, 18.2% Emotional Functioning, 11.4% Social Functioning, and 22.3% School Functioning problems). Using standardized scoring, the prevalence of scores below the cutoff score for clinically significant impaired QOL in each domain ranged from 10% to 20%, with agreement between scoring methods ranging from 89% to 93%, sensitivity 68% to 86%, and specificity 89% to 97%. Cardiologists reported interventions in 30.1% of patients. They found that the PedsQL was easy to use, did not interfere with clinic operations, required minimal time (1–5 minutes), and provided information that had an important impact on their practice in some patients. Conclusions This study demonstrates the clinical utility of health-related QOL assessment using the PedsQL in a pediatric cardiology outpatient setting. Identification of significant impairments in QOL can impact clinical decision making and may change psychosocial outcomes in children with congenital heart disease.

Malonyl coenzyme A (CoA) decarboxylase (MCD) deficiency is a rare autosomal recessive organic acidemia characterized by varying degrees of organ involvement and severity. MCD regulates fatty acid biosynthesis and converts malonyl-CoA to acetyl-CoA. Cardiomyopathy is 1 of the leading causes of morbidity and mortality in this disorder. It is unknown if diet alone prevents cardiomyopathy development based in published literature. We report a 10-month-old infant girl identified by newborn screening and confirmed MCD deficiency with a novel homozygous MLYCD mutation. She had normal echocardiogram measurements before transition to high medium-chain triglycerides and low long-chain triglycerides diet. Left ventricular noncompaction development was not prevented by dietary interventions. Further restriction of long-chain triglycerides and medium-chain triglycerides supplementation in combination with angiotensin-converting enzyme inhibitors helped to improve echocardiogram findings. Patient remained asymptomatic, with normal development and growth. Our case emphasizes the need for ongoing cardiac disease screening in patients with MCD deficiency and the benefits and limitations of current dietary interventions.

The Council of Pediatric Subspecialties (CoPS) was founded in September 2006 largely due to concerns about the nonuniformity of the fellowship application process. Working with the pediatric subspecialty community, CoPS has been successful in promoting a uniform process with many more pediatric fellowship programs now using a matching program and the Electronic Residency Application Service. More important, the organization has created a bidirectional network of communication among the pediatric subspecialties and has used this to accomplish a great deal more than improving the entry of residents into subspecialty training. CoPS has provided a united voice for the subspecialties in response to the Institute of Medicine’s Duty Hours report, participated in the development of educational conferences geared toward the subspecialist, promoted careers in the subspecialties, and worked with other pediatric organizations to advocate for improved health care for children. This article highlights CoPS’ many achievements and describes the methods it used to accomplish them, illustrating how pediatric subspecialists can develop a communication network and use this to work together to achieve common goals.

Background Cardiomyopathy is a heterogeneous disease with a strong genetic component. A research-based pediatric cardiomyopathy registry identified familial, syndromic, or metabolic causes in 30% of children. However, these results predated clinical genetic testing. Methods and Results We determined the prevalence of familial, syndromic, or metabolic causes in 83 consecutive unrelated patients referred for genetic evaluation of cardiomyopathy from 2006 to 2009. Seventy-six percent of probands (n = 63) were categorized as familial, syndromic, or metabolic. Forty-three percent (n = 18) of hypertrophic cardiomyopathy (HCM) patients had mutations in sarcomeric genes, with MYH7 and MYBPC3 mutations predominating. Syndromic (17%; n = 7) and metabolic (26%; n = 11) causes were frequently identified in HCM patients. The metabolic subgroup was differentiated by decreased endocardial shortening fraction on echocardiography. Dilated cardiomyopathy (DCM) patients had similar rates of syndromic (20%; n = 5) and metabolic (16%; n = 4) causes, but fewer familial cases (24%; n = 6) compared with HCM patients. Conclusions The cause of cardiomyopathy is identifiable in a majority of affected children. An underlying metabolic or syndromic cause is identified in >35% of children with HCM or DCM. Identification of etiology is important for management, family-based risk assessment, and screening.

There are limited data on the incidence or risk factors for IFI in pediatric heart transplant recipients. The purpose of this study was to describe the incidence and types of IFI, to determine risk factors for outcomes of IFI, and to assist in decision-making concerning the need for prophylactic strategies in pediatric heart transplant recipients. Data from a multi-institutional registry of 1854 patients transplanted between 01/93 and 12/04 were analyzed to determine risk factors and outcomes of children with IFI post-heart transplantation. One hundred and thirty-nine episodes of IFI occurred in 123 patients and made up 6.8% of the total number of post-transplant infections. IFI was most commonly attributed to yeast (66.2%), followed by mold (15.8%) and Pneumocystis jiroveci (13%). Ninety percent of the yeast infections were caused by Candida spp., and Aspergillus spp. was causative in 82% of the mold infections. There was a significantly increased risk of fungal infection associated with pretransplant invasive procedures (e.g., ECMO, prior surgery, VAD, mechanical ventilation) with an incremental risk with increasing numbers of invasive procedures (early phase 0 vs. 1, RR 1.3; 0 vs. 3, RR 2.3; p

Dilated (DCM), restrictive (RCM), and hypertrophic (HCM) cardiomyopathies (CM) in children have varying clinical courses and therapeutic options. Heart transplantation (HTx) offers a chance for long-term survival; but outcomes after listing have not been well defined.A multi-institutional registry of 3,147 patients listed for HTx (January 1993-December 2006) was used to compare outcomes of 1,320 children with CM (42%) and 1,827 with non-CM (58%) etiologies. Comparisons were made between sub-groups: 1,098 DCM (83%), 145 RCM (11%), and 77 HCM (6%).CM patients had a waitlist mortality of 17% vs 32% for non-CM patients (p0.0001), with no difference between the CM sub-groups. Risk factors were younger age, black race (relative risk [RR], 1.65; p = 0.009), mechanical ventilation (RR, 3.17; p0.001), and extracorporeal membrane oxygenation (RR, 2.16; p0.001). Ten-year survival after listing was 66% for CM vs 53% for non-CM (p0.0001). HCM and RCM patients aged1 year at the time of listing had the highest waitlist mortality and the lowest overall survival. CM patients had a better 10-year survival after HTx (68% vs 61%, p0.0001). Risk factors for death early after HTx included mechanical ventilation at HTx (RR, 3.07; p0.001), longer ischemic time (RR, 1.27; p = 0.01), and earlier era (RR, 1.77; p = 0.002). Late risk factors included black race (RR, 3.01; p0.001), HCM or RCM (RR, 1.93; p = 0.007), and older age (RR, 1.9; p0.001).Children with CM have a lower waitlist mortality and better survival post-HTx than children with a non-CM diagnosis. DCM patients have the best and HCM or RCM patients aged younger than 1 year have the worst overall outcomes.

Infantile cardiomyopathy is a genetically heterogeneous disorder with significant morbidity and mortality.This study aimed to identify the mutation present in four unrelated patients who presented as infants with isolated hypertrophic cardiomyopathy.In all four, a novel mitochondrial m.8528T--C mutation was identified. This results in a change of the initiation codon in ATPase 6 to threonine and a concurrent change from a highly conserved hydrophobic amino acid, tryptophan, at position 55 of ATPase 8 to a highly basic arginine. To our knowledge, this is the first report of a mutation affecting both mitochondrial genome-encoded complex V subunit proteins. Testing of the relatives of one patient indicated that the mutation is heteroplasmic and correlated with disease.Mitochondrial genome sequencing should be considered in patients with infantile hypertrophic cardiomyopathy.

We describe an open-chest epicardial approach to transcatheter pulmonary artery stenting in a critically ill infant following heart transplantation. Technical considerations, indications, and feasibility are discussed. This case provides another example of the value of a "hybrid" approach (combining surgery and interventional cardiology) to complex congenital heart disease.

Preamble 1523 1. Introduction 1524 2. General Standards 1526 3. Training Components 1526 4. Training Requirements 1528 5. Evaluation of Proficiency 1542 6. Maintenance of Competency 1543 References 1543 Appendix 1. Author Relationships with Industry and Other Entities (Relevant) 1545 Appendix 2. Reviewer Relationships with Industry and Other Entities (Relevant) 1548 Appendix 3. Abbreviations 1551 Since the 1995 publication of its Core Cardiovascular Training Statement (COCATS), the American College of Cardiology (ACC) has played a central role in defining …

Since the 2005 publication of the first “Training Guidelines for Pediatric Cardiology Fellowship Programs,”1 the field of pediatric cardiology has undergone significant growth and change, and thus, the Society of Pediatric Cardiology Training Program Directors (SPCTPD) in conjunction with the Joint Council of Congenital Heart Disease recommended the guidelines be revised accordingly. The SPCTPD board assembled a Steering Committee that nominated 2 chairs for each of the 8 Task Forces (7 as in the original document plus 1 for “advanced medical therapies,” [ie, heart failure, pulmonary hypertension, and cardiac transplantation]). Six to 8 members were selected from a list of potential committee members representing a wide range of program sizes, geographic regions, and subspecialty focuses. Representatives from the American College of Cardiology, American Academy of Pediatrics, and American Heart Association participated. These participants, along with 1 Steering Committee member, comprised each Task Force. A Steering Committee member was added to provide perspective to each Task Force as a “nonexpert” in that field. The authors developed the Task Force reports under guidance from the Task Force chairs, approved them for review by individuals selected by the participating organizations, and addressed the 258 comments submitted. The peer reviewers for each report are listed in an appendix in each Task Force report along with their employment information and affiliation in the review process. The final, complete document was approved by the Society of Pediatric Cardiology Training Program Directors, American Academy of Pediatrics, and the American Heart Association in February 2015 and by the American College of Cardiology in March 2015, and individual Task Force reports were endorsed by the organizations noted in each report. During the process of updating the guidelines, a paradigm shift in medical education occurred. The change to competency-based training now requires trainees to achieve an expected level of …

Long-term outcome after cardiac transplantation is limited by graft coronary vasculopathy (GCV). Hyperlipidemia may contribute to the development and progression of GCV. The purpose of this study was to determine the distribution of lipid levels in children after heart transplantation and to determine the incidence and risk factors for hyperlipidemia.We compared the distribution of lipid values 1 year after heart transplantation in children participating in Pediatric Heart Transplant Study to those of normal U.S. children and then performed a multivariable analysis to identify risk factors for hyperlipidemia.The median values of total and LDL-cholesterol in heart transplant patients were similar to those of normal U.S. pediatric population. However, total cholesterol level was200 mg/dl in 14% and170 mg/dl in 33% of transplant patients. LDL-cholesterol was130 mg/dl in 12%,110 mg/dl in 27% and100 mg/dl (greater than "optimal" levels) in 39% of transplant patients. The distribution curve for serum triglycerides was shifted to the right and that for HDL-cholesterol levels was shifted to the left of the normal U.S. pediatric curve. As a result, triglyceride levels were75th centile of U.S. normal distribution in 59% of the transplant patients. HDL-cholesterol level was25th centile of U.S. normal distribution in 61% of the transplant patients. Independent risk factors for elevated levels of total and LDL-cholesterol were patient age and use of cyclosporine and prednisone.Lipid levels considered to be in the intervention range in adults at high risk of coronary artery disease are a common finding after cardiac transplantation in children.

The objective of this study was to evaluate the safety and efficacy of carvedilol in pediatric patients with stable moderate heart failure. We performed a single-arm prospective drug trial at three academic medical centers and the results were compared to historical controls. Patients were 3 months to 17 years old with an ejection fraction

Duchenne muscular dystrophy leads to progressive deterioration in skeletal and cardiac muscle function. Steroids prolong ambulation and improve respiratory muscle strength. The authors hypothesized that steroid treatment would stabilize cardiac muscle function. Echocardiograms performed from 1997 to 2004 for 111 subjects 21 years of age or younger with Duchenne muscular dystrophy were restrospectively reviewed. The medical record was reviewed for steroid treatment. Untreated and steroids-treated subjects did not differ in age, height, weight, body mass index, systolic and diastolic blood pressure, or left ventricular mass. The shortening fraction was lower in the untreated group. Of those treated, 29 received prednisone and 19 received deflazacort. There was no difference in the shortening fraction between the two treated subgroups. Treated subjects not receiving steroids still had a normal shortening fraction, which was no different from the shortening fraction of those still receiving treatment. As compared with the treated subjects, the untreated subjects 10 years of age or younger were 4.4 times more likely to have a shortening fraction less than< 28% (p = 0.03), and the untreated subjects older than 10 years were 15.2 times more likely to have a shortening fraction less than< 28% (p < 0.01). This retrospective study suggests that the progressive decline in cardiac function of patients with Duchenne muscular dystrophy can be altered by steroid treatment. The effect appears to be sustained beyond the duration of treatment and independent of steroid type.

Pediatricians and other healthcare professionals need to be alert to the presence and progression of cardiac involvement in patients with MD. The signs and symptoms of cardiac involvement may be minimal, necessitating careful interval history, physical examination, and noninvasive cardiac testing. Available treatment strategies may reduce disease morbidity and mortality. It is reasonable to expect that a child who has skeletal muscle weakness from MD may have cardiac involvement, even if it is subclinical. Treatment of the muscular dystrophies through genetic engineering is a future dream. However, the improvements in clinical care, evaluation and treatment standards, and multidisciplinary supportive care are able to benefit the current generation of children.

Purpose: In circulations with pulsatile pulmonary artery flow the pulmonary venous wedge pressure (PVWp) has been validated as a good estimate of pulmonary artery pressure (PAp), when PAp is low. The purpose of this study was to validate PVWp estimates of PAp in the less-pulsatile pulmonary circulation of children after bidirectional Glenn shunts. Methods: A retrospective study was performed of 22 simultaneous measurements of PVWp and PAp made during 20 catheterizations in 19 children who had undergone bidirectional Glenn procedures. The PAp was measured directly from the branch PA ipsilateral to the side of the PVWp, or in the SVC. Pulmonary resistance (Rp) was calculated with both PAp and PVWp, to assess the impact of PAp estimates on Rp determinations. Results: Patients ranged in age from 5 months to 10.7 years. There were a variety of univentricular cardiac malformations in the study group. Two children had antegrade pulmonary blood flow in addition to a bidirectional Glenn shunt. The mean PAp ranged from 4 to 14 mmHg, while mean PVWp ranged from 3 to 15 mmHg. Mean PVWp never differed from mean PAp by more than 3 mmHg. There was a significant linear relation between mean PAp and PVWp: PAp = 0.86 (PVWp) + 2.0 (R2= 0.89; P < 0.0001). PVWp provided a good approximation of PAp regardless of the presence (n = 2) or absence (n = 19) of antegrade pulmonary flow. There was a good linear correlation between the Rp calculated by both methods (RpPAp = 0.9 (RpVWp) + 0.5; R2= 0.74; P < 0.0001). Conclusion: The mean PVWp provides a close approximation of mean PAp in children with a bidirectional Glenn shunt and provides valuable hemodynamic information in cases where direct PAp measurements are unavailable. (J Interven Cardiol 2003;16:367–370)

The purpose of this study was to explore the validity of diastolic indices derived from color M-mode Doppler and Doppler tissue imaging in a heterogeneous group of pediatric patients by comparing them with simultaneously obtained invasive indices of diastolic function.A total of 20 children undergoing left heart catheterization had echocardiographic images recorded simultaneously with high-fidelity left ventricular (LV) pressure tracings. Transmitral Doppler, pulmonary vein Doppler, Doppler tissue imaging, and color M-mode Doppler flow propagation velocity were recorded. LV peak negative dP/dt, the time constant of isovolumic relaxation, and LV end-diastolic pressure were compared with the echocardiographic indices.The ratio of peak E-wave mitral velocity/propagation velocity correlated significantly with LV end-diastolic pressure (r = 0.71; P.001). Propagation velocity correlated with the time constant of isovolumic relaxation (r = -0.56; P =.01) and peak negative dP/dt (r = 0.50; P.03). Septal mitral annular myocardial velocity correlated significantly with the time constant of isovolumic relaxation (r = -0.58, P =.01).The newer diastolic indices derived from color M-mode Doppler and Doppler tissue imaging appear to be a helpful adjunct in the noninvasive assessment of diastolic function in children.

We present the anatomic constellation of mitral stenosis/aortic atresia variant of hypoplastic left heart syndrome, Ebstein's anomaly, and partial anomalous pulmonary venous return, an exceeding rare congenital heart defect. Prenatal echocardiography led to concern about the capacity of the right ventricle to increase cardiac output with lung expansion and pulmonary arterial runoff at birth, prompting the precaution of extracorporeal membrane oxygenator standby at delivery. Stage I palliation was not attempted, and control of pulmonary arterial blood flow was achieved with pulmonary artery banding, allowing sufficient ongoing hemodynamic stability. Orthotopic cardiac transplantation, repair of hypoplastic aortic arch, and primary sutureless repair of left pulmonary veins was performed, using dual-site arterial cannulation and continuous mild hypothermic cardiopulmonary bypass. We discuss how this unique echocardiographic anatomy influenced the surgical decision and point out how it guided therapy toward a strategy of primary transplantation rather than standard staged surgical palliation.

Children with end-stage cardiac failure are at risk of HA and PG. The effects of these factors on post-transplant outcome are not well defined. Using the PHTS database, albumin and growth data from pediatric heart transplant patients from 12/1999 to 12/2009 were analyzed for effect on mortality. Covariables were examined to determine whether HA and PG were risk factors for mortality at listing and transplant. HA patients had higher waitlist mortality (15.81% vs. 10.59%, p = 0.015) with an OR of 1.59 (95% CI 1.09-2.30). Survival was worse for patients with HA at listing and transplant (p ≤ 0.01 and p = 0.026). Infants and patients with congenital heart disease did worse if they were HA at time of transplant (p = 0.020 and p = 0.028). Growth was poor while waiting with PG as risk factor for mortality in multivariate analysis (p = 0.008). HA and PG are risk factors for mortality. Survival was worse in infants and patients with congenital heart disease. PG was a risk factor for mortality in multivariate analysis. These results suggest that an opportunity may exist to improve outcomes for these patients by employing strategies to mitigate these risk factors.

Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the literature. We suggest that sudden death is a more common complication than has been assumed previously. Pathologic findings on the seven autopsy cases implicate two anatomic abnormalities that predispose individuals with WS to sudden death: coronary artery stenosis and severe biventricular outflow tract obstruction. The mechanisms for sudden death for both anatomic subgroups include myocardial ischemia, decreased cardiac output, and arrhythmia. We believe these observations warrant the development of strategies for monitoring patients with WS in an attempt to identify those at increased risk of sudden death.

Pleural effusions after the modified Fontan procedure are unpredictable, increase morbidity, and prolong hospital stay. To assess the relation between preoperative characteristics and postoperative pleural drainage, we performed a retrospective study of 71 patients who underwent Fontan procedures. Analyses revealed no significant relation between duration of effusion and age at Fontan, preoperative oxygen saturation, pulmonary artery pressure, ventricular end-diastolic pressure, type of Fontan, or prior cavopulmonary anastomosis. Patients with significant aortopulmonary collateral vessels evidenced by angiographic opacification of the pulmonary arteries or veins had more prolonged pleural drainage. The duration of the pleural drainage was significantly less in patients who had aortopulmonary collateral occlusion.

Background The modified Fontan procedure has become the treatment of choice for patients born with a univentricular heart. Although the operative mortality has steadily decreased in recent years, the hospital stay is still prolonged in many patients due to fluid retention and pleural effusions. Methods We retrospectively analyzed subsets of patients undergoing the bidirectional cavopulmonary shunt (BDCPS) and modified Fontan procedure in an attempt to define factors influencing operative mortality and morbidity. Results Multivariate analysis of 64 patients undergoing BDCPS revealed that age 6 months or less, concomitant operation, mean pulmonary pressure of 15 mm Hg or less, and mean pulmonary artery ratio of 1.8:1 or less were not statistically significant indicators of risk. Abnormal pulmonary artery architecture was a significant predictor of early and late death (p ≤ 0.01). Retrospective analysis of 71 patients undergoing the modified Fontan procedure revealed no significant relationship between duration of pleural effusions and age at operation, preoperative oxygen saturation, pulmonary artery pressure, ventricular end-diastolic pressure, or prior BDCPS. Patients with important aortopulmonary collateral vessels defined by angiography had prolonged pleural drainage. Selective use of the total extracardiac conduit and the fenestrated Fontan resulted in low overall mortality with no statistical differences between subsets of patients undergoing different modifications of the Fontan procedure. Conclusions These data indicate that the operative risk for BDCPS or modified Fontan procedure is quite low if a procedure appropriate for the patient is selected. Abnormal pulmonary artery architecture is an important risk factor for death after the BDCPS. Aortopulmonary collateral vessels are associated with fluid retention and pleural effusions after a modified Fontan procedure. Important aortopulmonary collateral vessels should be occluded before or during the modified Fontan procedure.

Common pulmonary vein atresia is a rare form of cyanotic congenital heart disease in which the pulmonary veins join to form a blind confluence that does not communicate with the heart or the major systemic veins. Twenty-one cases have been reported since the lesion was first described in 1962; only two patients with this lesion have survived. Over a 4-year period, common pulmonary vein atresia was diagnosed in five newborns referred to the San Diego Regional Extracorporeal Membrane Oxygenation Program. All five improved dramatically as a result of venoarterial bypass. Congenital heart disease was diagnosed at autopsy in the initial case and by cardiac ultrasound and/or catheterization in the others. Surgical repair was attempted in three neonates; all three required continued extracorporeal membrane oxygenation support postoperatively because of pulmonary hypertension and severe pulmonary parenchymal disease. One infant died of respiratory insufficiency at 3 months of age. The other two survived and were discharged from the hospital. The diagnostic and therapeutic dilemmas posed by this lesion and the life-saving potential for extracorporeal membrane oxygenation in this rapidly fatal cardiac anomaly are the bases of this report.

ObjectiveOur purpose was to review the literature with respect to issues of adherence to treatment among children with congenital and acquired cardiac disease.Materials and MethodsDatabases used for this review included MEDLINE, Pub Med’s Single Citation Manager, Cochrane Library, Cochrane Central Register of Controlled Trials, Scopus, and Google Scholar. We did not use any restrictions on date when locating peer-reviewed articles published worldwide through December of 2008.ResultsThere exists a lack of published research regarding adherence to medical treatment for children with cardiac conditions. Of the few published studies, rates of adherence for children with congenital and acquired cardiac disease ranged from a high of 96% for an in-patient exercise programme, to a low of 33% among those who made all of their medical appointments. Risk factors for nonadherence included older age, one as opposed to two parents in the home, lack of emotional availability of parents, smoking, sedentary lifestyle, use of illicit drugs, presence of tattoos, and multiple body piercings. Clinical outcomes associated with non adherence in the population of children undergoing transplantation included mortality, acute episodes of rejection, lower levels of Cyclosporine A, and lower values for the International Normalised Ratio of prothrombin.ConclusionsFor children with congenital and acquired heart disease, the challenges of adherence to treatment can often be overwhelming. Recommendations designed to maximize the impact and scientific rigour of future studies include obtaining quantitative and qualitative measures of adherence, identifying primary and secondary endpoints, emphasizing factors of interest, planning studies with sufficient power to impact on the adherence to treatment, and developing epidemiologic foundations.

Physical functioning is without restriction in most pediatric heart transplant survivors, but only limited data are available about neuropsychologic outcomes in these children. In this study we assess neurodevelopmental outcomes in transplant survivors in comparison to population norms.Neuropsychologic evaluations were performed 12 to 24 months (mean 16 months) post-transplant in 21 children ranging in age from 1 to 101 months (median 15 months) at time of transplant. Outcomes included verbal, non-verbal and overall intelligence; visual-motor integration skills; and adaptive functioning.Transplant recipients had a mean overall IQ of 86.7, verbal IQ of 88.4 and non-verbal IQ of 87.5, all significantly below the normative population mean of 100 (p0.01). Thirty-eight to 43% of subjects had low IQ scores (i.e.,85), significantly more than the normative 16% base rate (p0.02). Children with an initial diagnosis of congenital heart disease (CHD) had lower overall IQ (mean 78.6) than those with cardiomyopathy (mean 91.7). The mean expressive language score was 88.1, significantly below norms (p0.01), with 46% having low scores (p = 0.01). Receptive language was normal in the same patients (mean 96.8). Finally, 63% of patients had visual-motor deficits and 48% had fine motor deficits (p0.005 compared with norms).Although many pediatric heart transplant recipients display normal neurodevelopmental functioning, this population is at increased risk for cognitive difficulties, especially in expressive language, visual-motor integration and fine motor skills. Children with CHD may be at especially high risk. Early identification and intervention are essential to promote optimal neuropsychologic outcomes and overall quality of life in pediatric heart transplant recipients.

The Damus-Kaye-Stansel operation is a useful technique for the treatment of complex cyanotic congenital heat disease when there is obstruction between the systemic ventricle and the aorta. Modifications of the technique include transection of the aorta and the pulmonary artery, anastomosis of the contiguous aortic and pulmonary walls, and connection of the distal aorta to the perimeter of the new bivalved proximal great artery. In addition, the bidirectional cavopulmonary shunt technique can be used with or without the Fontan procedure. Six patients underwent a Damus-Fontan operation, and all survived. Two patients underwent the Damus-cavopulmonary shunt (hemi-Fontan) procedure, and 1 survived. The postoperative status of the 7 survivors is good to excellent. Follow-up ranges from 2 months to 7 1 / 2 years.

The bidirectional cavopulmonary shunt improves systemic arterial oxygen saturation without increasing ventricular work or pulmonary vascular resistance. Since 1983, 17 patients have undergone a cavopulmonary shunt procedure (five primary operations, 12 secondary operations). Diagnoses were single ventricle complex (n = 4), hypoplastic right heart syndrome (n = 10), and hypoplastic left ventricle (n = 3). Age at primary operation ranged from 3 1/2 to 30 months (median 6 months). Weight ranged from 3.5 to 9.7 kg. Age at secondary operation ranged from 10 months to 14 years (median 15 months). Seven cavopulmonary shunt operations were performed without cardiopulmonary bypass (six via thoracotomy and one via sternotomy) and 10, with cardiopulmonary bypass. All patients in the bypass group had additional procedures: takedown of modified Blalock-Taussig shunt, seven patients; revision of right ventricular outflow tract, four patients; reconstruction of pulmonary arteries, four patients; tricuspid valvuloplasty, one patient; and Damus procedure, one patient. There was one (1/17) operative death (Damus procedure). One patient required early revision. Follow-up ranges from 1 to 53 months (median 23 months). Twelve of 16 had a good to excellent late result, with a rise in mean arterial oxygen saturation from 69% to 83%. Three patients died late (4 to 53 months) (pulmonary vascular disease, pulmonary arteriovenous malformations, and pneumonia, one patient each). There was one late failure (converted to Glenn shunt). The cavopulmonary shunt is an excellent palliative procedure when right atrium-pulmonary artery connection (modified Fontan) must be deferred because of age, weight, or anatomic considerations. Five patients have undergone right atrium-pulmonary artery connection later. In addition, at the time of the modified Fontan operation, the cavopulmonary shunt approach may optimize the anatomic connection (eight additional patients).

Most children do not have a known cause of cardiomyopathy which limits the potential for disease-specific therapies. Of the different phenotypic presentations of cardiomyopathy, the restrictive form carries the poorest prognosis and has the lowest rate of identification of etiology. We present the first description of a beta-myosin heavy chain gene mutation in an infant with restrictive cardiomyopathy requiring cardiac transplantation. As demonstrated by three-dimensional protein structure modeling, the missense mutation is in a highly conserved amino acid at the critical binding region for the essential light chain. This case emphasizes that mutations in sarcomeric proteins, which are known to cause hypertrophic cardiomyopathy in adults, may be associated with the development of restrictive physiology in childhood. Identification of the genetic basis of pediatric cardiomyopathy has important implications for management and genetic counseling.

Objective Our purpose was to evaluate yield of tools commonly advocated for surveillance of tetralogy of Fallot (TOF). Methods All patients (pts) with TOF, seen at any time from 1/2008 to 9/2013 in an academic cardiology practice were studied. At the first and each subsequent outpatient visit, the use of tools including history and physical (H&P), ECG, Holter (HOL), echocardiogram (Echo), MR or CT (MR-CT) and stress testing (STR) were noted. Recommendations for intervention (INT) and for time to next follow-up were recorded; rationale for each INT with attribution to one or more tools was identified. Results There were 213 pts (mean 11.5 years, 130 male) who had 916 visits, 123 of which (13.4%) were associated with 138 INTs (47 surgical, 54 catheter-mediated, 37 other medical). Recommended follow-up interval was 9.44±6.5 months, actual mean follow-up interval was 11.7 months. All 916 (100%) patient visits had a H&P which contributed to 47.2% of INT decisions. Echo was performed in 652 (71.2%) of visits, and contributed to 53.7% of INTs. MR-CT was obtained in 129 (14.1%) of visits, and contributed to 30.1% of INTs. ECG was applied in 137 (15%) visits, and contributed to 1.6% of INTs. HOL was obtained in 188 (20.5%) visits, and contributed to 11.3% of INTs. STR was performed at 101 (11%) of visits, and contributed to 8.9% of INTs. Conclusions INTs are common in repaired TOF, but when visits average every 11–12 months, most visits do not result in INT. H&P, Echo and HOL were the most frequently applied screens, and all frequently yielded relevant information to guide INT decisions. STR and MR/CT were applied as targeted testing and in this limited, non-screening role had high relevance for INT. There was low utilisation of ECG and major impact on INT was not demonstrated. Risk stratification in TOF may be possible, and could result in more efficient surveillance and targeted testing.

We report the use of continuous intravenous inotrope infusion as a palliative management strategy for the treatment of symptomatic, refractory, end stage cardiac dysfunction in patients with Duchenne muscular dystrophy. Milrinone and/or dobutamine administered by continuous intravenous infusion provided symptomatic and objective cardiovascular improvement up to 30 months in 3 individuals with Duchenne muscular dystrophy and severe dilated cardiomyopathy. Continuous inotrope infusion should be considered a practical treatment strategy for end stage cardiac dysfunction in Duchenne muscular dystrophy patients when cardiac transplantation is not a viable option.

taDuchenne muscular dystrophy (DMD), an X-linked recessive myopathy with an incidence of 1 in 3500 male births, is caused by a mutation that results in the absence of the cytoskeletal protein dystrophin. 1,2 The lack of dystrophin causes mechanical weakening of the sarcolemma, which results in loss of membrane integrity, an inappropriate influx of calcium, and altered cell signaling leading to activation of degradative pathways. Thus, the dystrophin-deficient myoca dium provides the biologic substrate for the ultimate development of cardiac dysfunction. With a shift in the heart failure management paradigm to earlier diagnosis and treatment in at-risk groups, DMD is a disease to be classified as stage A (high risk), if not stage B (presence of structural heart disease) according to recent guidelines. Reports have described cardiac abnormalities from DMD diagnosis through the first decade of life before the onset of heart failure. 7-10 However, heart failure from dilated cardiomyopathy (DCM) has not typically been observed until relatively late in the disease process. 11,12 Improvements in pulmonar support and the addition of steroid therapy have impacted positively the function of skeletal muscles used in respiration and ambulation, and the morbidity and mortality associated with this diseas 13

Ring chromosome 21 syndrome is a rare condition with a well-characterized phenotype. Affected individuals have recognizable dysmorphic features, developmental delays, growth retardation, and a predisposition for congenital malformations involving the neurologic, craniofacial, digestive, genitourinary, skeletal, and hematologic systems. Structural cardiac anomalies have also been described, but dilated ascending aorta has not been previously reported in association with ring 21 (r(21)). Although rarely seen in this syndrome, the presence of ectopia lentis, abdominal herniae, and dilated ascending aorta suggest an underlying connective tissue disorder. A possible explanation is haploinsufficiency of the COL6A1, COL6A2, and/or COL18A genes located on the distal portion of chromosome 21q, which are lost when the ring chromosome is formed. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html. © 2004 Wiley-Liss, Inc.

To determine the incidence of catheter-related surgical emergencies during pediatric interventional catheterization procedures.We reviewed all interventional catheter procedures (n = 578) over a 4-year period (April 1996 to April 2000) to determine any complication during interventional catheterization that required surgery within 24 hours after catheterization.The overall incidence of surgical emergencies was 1.9% (70% confidence limits, 1.5% to 2.7%). Complications that required surgical intervention occurred with balloon dilation (valvuloplasty, angioplasty, n = 4), device deployment (coils, stents, atrial-septal defect devices, n = 5), transhepatic access (n = 1), and atrial transseptal puncture (n = 1). For the majority of interventions, the incidence of surgical emergencies was4% except for two procedures (conduit and pulmonary artery angioplasty) with limited numbers of patients. There were no surgical emergencies during endomyocardial biopsy, coarctation angioplasty, or balloon atrial septostomy.Surgery was required in 1.9% of all interventional catheter procedures. Surgical emergencies occurred during a wide variety of catheter interventions and could not be predicted by the type of procedure performed.

The bidirectional Glenn procedure (BDG) is used in the staged surgical management of patients with a functional single ventricle. Controversy exists regarding whether accessory pulmonary blood flow (APBF) should be left at the time of BDG to augment systemic saturation or be eliminated to reduce volume load of the ventricle. The present study was a retrospective review of patients undergoing BDG that was conducted to assess the influence of APBF on survival rates.From 1986 through 1998, 149 patients have undergone BDG at our institution. Ninety-three patients had elimination of all sources of APBF, whereas 56 patients had either a shunt or a patent right ventricular outflow tract intentionally left in place to augment the pulmonary blood flow provided by the BDG. The operative mortality rate was 2.2% without APBF and 5.4% with APBF. The late mortality rate was 4.4% without APBF and 15.1% with APBF. Actuarial analysis demonstrates a divergence of the Kaplan-Meier curves in favor of patients in whom APBF was eliminated (P0.02). One hundred seven patients have subsequently undergone completion of their Fontan operation, so the actuarial analysis includes the operative risk of this second operation.The results suggest that the elimination of APBF at the time of BDG may confer a long-term advantage for patients with a functional single ventricle.