Preparticipation State Cardiac Screening Forms for Athletes.

BACKGROUND AND OBJECTIVES: Annual preparticipation physical evaluation (PPE) is used in the United States to screen adolescents for potential causes of sudden cardiac death. The American Heart Association recommends 14 screening elements of history and physical examination. This study sought to define the utilization of these screening elements by each of the 50 states before high school athletics. METHODS: PPE forms were obtained from the public website of the high school athletics governing body in every state. Form content was analyzed to identify which of the 14 screening elements were explicitly fulfilled. Additional PPE forms provided by private/parochial schools, other professional societies, or independent groups were excluded from this study. RESULTS: A total of 48 states (96%) had PPE forms posted online. The remaining 2 states (4%) deferred the specific method of PPE documentation to individual school districts and provided no standardized form. Of the 48 states providing PPE forms, 13 (27%) included all 14 American Heart Association screening elements. The median criteria included by each state was 11 (range 3-14). The 3 criteria most commonly absent were (1) the examination of femoral pulses to exclude coarctation (58%), (2) a family history of specific inherited cardiac disease (31%), and (3) personal history of hypertension (27%). CONCLUSIONS: Annual preparticipation forms are important screening tools. Only a minority of states include all 14 cardiac screening elements recommended by the American Heart Association.

Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle.

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.).

The landscape of cardiovascular care in pediatric cancer patients and survivors: a survey by the ACC Pediatric Cardio-Oncology Work Group.

OBJECTIVE: To enhance the understanding of cardiovascular care delivery in childhood cancer patients and survivors. STUDY DESIGN: A 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. RESULTS: Sixty-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 < 0.01). The most common indications for referral to cardiology at pediatric centers were abnormal test results (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%). CONCLUSIONS: The 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.

Impact of clinical follow-up and diagnostic testing on intervention for tetralogy of Fallot.

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.

Fetal and neonatal imaging and strategy of primary neonatal heart transplantation in hypoplastic left heart with Ebstein's anomaly.

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.

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

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.

Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

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.

Adherence to treatment among children with cardiac disease.

OBJECTIVE: Our purpose was to review the literature with respect to issues of adherence to treatment among children with congenital and acquired cardiac disease. MATERIALS AND METHODS: Databases 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. RESULTS: There 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. CONCLUSIONS: For 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.

Ductal stent and cavo-atrial sac occlusion in an adult with profound cyanosis after palliated cyanotic congenital heart disease.

We report a unique combination of PDA stent placement and occlusion of a persistent cavo-atrial connection in an adult with complex cyanotic congenital heart disease. The unusual anatomy and physiology with prior palliative surgery were amenable to catheterization intervention and have resulted in marked clinical improvement.

Open-chest epicardial approach to transcatheter pulmonary artery stenting following heart transplantation in an infant.

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.

Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy.

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.

The heart in muscular dystrophy.

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.