The past, present, and future of paediatric cardiology training at the Johns Hopkins Hospital, in the tradition of Dr Helen Taussig.

Johns Hopkins has been a leader in paediatric cardiology for over 85 years. In the 1940s, Dr Helen Taussig began training fellows in paediatric cardiology at Johns Hopkins at a time when the diagnosis and treatment of CHD were in the earliest stage. Under her leadership, the fellowship developed a strong foundation that has continued to evolve to meet the current needs of learners and educators. In the current era, the Johns Hopkins programme implements the current theories of adult education and actively engages our fellows in learning as well as teaching. The programme uses techniques such as flipped classroom, structured case-based small-group learning, observed and structured clinical examination, simulations, and innovative educational technology. These strategies combined with our faculty and rich history give our fellows a unique educational experience.

Tetralogy of Fallot: epidemiology meets real-world management: lessons from the Baltimore-Washington Infant Study.

Decades ago, mass-scale epidemiologic studies were undertaken to accurately describe the prevalence of congenital heart disease and associated malformations, and to identify inheritance patterns, teratogenic influence and aetiologic underpinnings. Despite phenomenal breakthroughs in molecular diagnosis of congenital heart disease, original population-based studies for detailed knowledge of prevalence, associated malformations, and appropriate patient and family counselling remain invaluable to the armamentarium and knowledge base of paediatric cardiologists. No modern-era studies have supplanted the importance of the Baltimore-Washington Infant Study undertaken from 1981 to 1989. In this article, we reprise the findings of the Baltimore-Washington Infant Study in tetralogy of Fallot, as well as to review current molecular diagnosis.

Frontiers in pulmonary hypertension in infants and children with bronchopulmonary dysplasia.

Pulmonary hypertension (PH) is an increasingly recognized complication of premature birth and bronchopulmonary dysplasia (BPD), and is associated with increased morbidity and mortality. Extreme phenotypic variability exists among preterm infants of similar gestational ages, making it difficult to predict which infants are at increased risk for developing PH. Intrauterine growth retardation or drug exposures, postnatal therapy with prolonged positive pressure ventilation, cardiovascular shunts, poor postnatal lung and somatic growth, and genetic or epigenetic factors may all contribute to the development of PH in preterm infants with BPD. In addition to the variability of severity of PH, there is also qualitative variability seen in PH, such as the variable responses to vasoactive medications. To reduce the morbidity and mortality associated with PH, a multi-pronged approach is needed. First, improved screening for and increased recognition of PH may allow for earlier treatment and better clinical outcomes. Second, identification of both prenatal and postnatal risk factors for the development of PH may allow targeting of therapy and resources for those at highest risk. Third, understanding the pathophysiology of the preterm pulmonary vascular bed may help improve outcomes through recognizing pathways that are dysregulated in PH, identifying novel biomarkers, and testing novel treatments. Finally, the recognition of conditions and exposures that may exacerbate or lead to recurrent PH is needed to help with developing treatment guidelines and preventative strategies that can be used to reduce the burden of disease.

Hypoplastic left heart syndrome and other left heart disease: evolution of understanding from population-based analysis to molecular biology and back again--a brief overview.

Congenital cardiac disease is the most common birth defect, occurring in approximately 1 in 1000 live births. Congenital cardiac defects have associations, whether with gender, race, or specific chromosomal abnormalities, potentially allowing grouping of defects to be studied in an effort to develop an understanding of aetiological factors. The Baltimore-Washington Infant Study provides full ascertainment of a population of infants with congenital cardiac disease born in a defined geographic region. The fundamental hypotheses generated at the inception of the Baltimore-Washington Infant Study included the central idea that the outcome of birth, including the development of congenital cardiac malformations, was influenced by environmental factors and their route of introduction into a genetically susceptible host. Evidence exists that supports the concept that both genetic and environmental factors contribute to the development of diseases of the left heart.

Analysis of 8681 neonates with transposition of the great arteries: outcomes with and without Rashkind balloon atrial septostomy.

BACKGROUND: Rashkind balloon atrial septostomy is a common cardiac procedure aimed at improving systemic oxygenation in newborns with cyanotic congenital cardiac defects, such as transposition of the great arteries. Recent reports on the safety of this procedure were from limited series at single institutions. We analysed two complementary national databases to evaluate clinically relevant outcomes of this procedure. METHODS AND RESULTS: We performed an analysis of transposition of the great artery patients nationwide using 15 years of the Nationwide In-patient Sample and three complementary years of the Kids' Inpatient Database. Variables included gender, race, age, and co-existing diagnoses. Outcomes included mortality, length of stay, and hospital charges. Comparison between patients undergoing Rashkind procedure or not was performed using Pearson's chi-square and Kruskal-Wallis tests. We identified 8681 patients with transposition of the great arteries, of whom 1742 (20%) underwent Rashkind procedure. Patients undergoing Rashkind procedure had lower mortality (10% versus 12%, p = 0.021), despite higher median co-morbidities and longer median length of stay. Rashkind procedure was not associated with increased risk of necrotising enterocolitis (1% versus 1%, p = 0.630), but was associated with nearly twice the risk of clinically recognised stroke (1% versus 0%, p = 0.046). CONCLUSIONS: This study represents the largest national analysis of transposition of the great artery patients to date, with a subset treated with Rashkind procedure. Patients not undergoing Rashkind procedure had higher mortality. Rashkind procedure was not associated with increased risk of necrotising enterocolitis, but was associated with twice the risk of stroke.

Outcomes analysis of necrotizing enterocolitis within 11 958 neonates undergoing cardiac surgical procedures.

Through an analysis of 2 databases, we describe outcomes among 11 958 neonates with congenital heart disease undergoing cardiac procedures, with 194 developing necrotizing enterocolitis (NEC). Neonates with congestive heart failure or those undergoing systemic to pulmonary artery shunting were more likely to develop NEC, but these patients had inpatient mortality similar to that of their non-NEC counterparts.

Sudden cardiac death in athletes: the Lausanne Recommendations.

OBJECTIVES: This study reports on sudden cardiac death (SCD) in sport in the literature and aims at achieving a generally acceptable preparticipation screening protocol (PPSP) endorsed by the consensus meeting of the International Olympic Committee (IOC). BACKGROUND: The sudden death of athletes under 35 years engaged in competitive sports is a well-known occurrence; the incidence is higher in athletes (approximately 2/100,000 per year) than in non-athletes (2.5 : 1), and the cause is cardiovascular in over 90%. METHODS: A systematic review of the literature identified causes of SCD, sex, age, underlying cardiac disease and the type of sport and PPSP in use. Methods necessary to detect pre-existing cardiac abnormalities are discussed to formulate a PPSP for the Medical Commission of the IOC. RESULTS: SCD occurred in 1101 (1966-2004) reported cases in athletes under 35 years, 50% had congenital anatomical heart disease and cardiomyopathies and 10% had early-onset atherosclerotic heart disease. Forty percent occurred in athletes under 18 years, 33% under 16 years; the female/male ratio was 1/9. SCD was reported in almost all sports; most frequently involved were soccer (30%), basketball (25%) and running (15%). The PPSP were of varying quality and content. The IOC consensus meeting accepted the proposed Lausanne Recommendations based on this research and expert opinions (http://multimedia.olympic.org/pdf/en_report_886.pdf). CONCLUSION: SCD occurs more frequently in young athletes, even those under the age of 18 years, than expected and is predominantly caused by pre-existing congenital cardiac abnormalities. Premature atherosclerotic disease forms another important cause in these young adults. A generally acceptable PPSP has been achieved by the IOC's acceptance of the Lausanne Recommendations.

Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d-transposition of the great arteries.

Cardiovascular malformations (CVM) are the most common birth defects and carry significant and lifelong personal and societal costs. Research into genetic and environmental risk factors is therefore critical in identifying clues to causation and prevention. The purpose of this study was to investigate patterns of familial aggregation in CVM, specifically among infants with left-sided obstructive heart defects. We ascertained families of probands with hypoplastic left heart (HLH: N = 38), coarctation of the aorta (CoA: N = 46), and d-transposition of the great arteries (dTGA: N = 22). First degree relatives had clinical examinations and echocardiograms; all other relatives had detailed reviews of medical records. A total of 2,694 relatives were included in the study: 379 1st degree, 986 2nd degree, and 1,329 3rd degree. Mean nuclear family size and sibship size were similar among the groups. CVM were detected more frequently in 1st degree relatives of probands with HLH (19.3%) or CoA (9.4%) than among dTGA families (2.7%). The proportions of affected 2nd degree relatives were similar across groups (

Pacemaker therapy in isolated congenital complete atrioventricular block.

The aim of this study was to evaluate the effect of pacemaker (PM) therapy in patients with isolated congenital complete atrioventricular block (CCAVB). Patients with CCAVB eventually quality for PM implantation, however, timing remains controversial. Retrospective evaluation of left ventricular end-diastolic diameter (LVEDD), shortening fraction (SF), and cardiothoracic ratio (CTR) in 149 CCAVB patients, before, at, and after PM implantation was carried out. LVEDD shows an average increase of 0.48%/month in non-PM patients, and an average decrease of 0.88%/month in PM patients. SF shows an average increase of 0.10%/month in non-PM, and an average decrease of 0.32%/month in PM patients. CTR shows an average increase of 0.02%/month in non-PM, and an average decrease of 0.19%/month in PM patients. The difference between the non-PM and PM groups is significant (P = 0.05) for all variables. Symptomatic patients show no significant change in LVEDD after PM therapy (from 66.5% before to 68.5% after PM therapy). Asymptomatic patients do show a significant (P < 0.001) decrease in LVEDD after PM therapy (from 78.4% before to 73.3% after PM therapy). CTR does not differ significantly between symptomatic and asymptomatic patients before PM therapy (58% and 57%, respectively). CTR does differ significantly (P < 0.001) between symptomatic and asymptomatic patients after PM therapy (52% and 48%, respectively). Heart size and SF are increased in most patients with isolated CCAVB. PM implantation is associated with a decrease in heart size and normalization of SF in most patients. Indications for PM therapy in children may require reevaluation in asymptomatic patients with increased cardiac size and decreased cardiac function.