We describe a profoundly retarded infant girl with multiple anomalies caused by trisomy 13. Due to heart failure, which was resistant to medical treatment, we closed successfully a ventricular septal defect at three months of age. She died at 10 months of age. Despite the short survival, we believe that the patient benefitted significantly from the surgical repair of her cardiac defect.

efforts to treat babies with hypoplastic left heart syndrome began over 30 years ago, when surgeons first reported limited success with palliative surgery. cayler et al. performed an anastomosis between the ascending aorta and the right pulmonary artery, bilateral banding of the pulmonary arteries, and an atrial septectomy. their follow-up extended for only 7 months, but the authors predicted that the rapid advances being made in cardiac surgery at the time heralded a new era where hypoplastic left heart syndrome would be cured. unfortunately, that prediction remains far from true today, although dramatic advances have been made in the therapy of this otherwise lethal condition.

We present a case of infective endocarditis caused by Streptococcus gordonii in an 11-year-old girl with Barlow’s mitral valve disease. The differential diagnosis of rheumatic carditis and infective endocarditis was difficult as the patient fulfilled the Jones criteria. Vegetation on the mitral valve which became evident later in course of the disease and positive blood culture allowed diagnosing “definite” infective endocarditis.

We describe a patient with advanced perinatal acquired immunodeficiency syndrome who had early clinical manifestation of severe dilated cardiomyopathy with congestive heart failure. The picture was completely reversed after six years treatment and follow-up, and the child is now doing well at the age of seven, with normal left ventricular dimension and contractility as shown by echodopplercardiography. To the best of our knowledge, this is the first reported case of full recovery from cardiomyopathy in children with perinatally acquired infection by the human immunodeficiency virus.

Anomalous aortic origin of the coronary arteries is associated with exercise-induced ischaemia, leading some physicians to restrict exercise in patients with this condition. We sought to determine whether exercise restriction was associated with increasing body mass index over time. From 1998 to 2015, 440 patients ⩽30 years old were enrolled into an inception cohort. Exercise-restriction status was documented in 143 patients. Using linear mixed model repeated-measures regression, factors associated with increasing body mass index z-score over time, including exercise restriction and surgical intervention as time-varying covariates, were investigated. The 143 patients attended 558 clinic visits for which exercise-restriction status was recorded. The mean number of clinic visits per patient was 4, and the median duration of follow-up was 1.7 years (interquartile range (IQR) 0.5–4.4). The median age at first clinic visit was 10.3 years (IQR 7.1–13.9), and 71% (101/143) were males. All patients were alive at their most recent follow-up. At the first clinic visit, 54% (78/143) were exercise restricted, and restriction status changed in 34% (48/143) during follow-up. The median baseline body mass index z-score was 0.2 (IQR 0.3–0.9). In repeated-measures analysis, neither time-related exercise restriction nor its interaction with time was associated with increasing body mass index z-score. Surgical intervention and its interaction with time were associated with decreasing body mass index z-score. Although exercise restriction was not associated with increasing body mass index over time, surgical intervention was associated with decreasing body mass index z-score over time in patients with anomalous aortic origin of the coronary arteries.

A 41-day-old boy was transferred to our department with severe congestive heart failure. Digital subtraction counter current aortography, and antegrade aortography, revealed coarctation of a persistent right fifth aortic arch, stenosis of the origin of an aberrant left subclavian artery, and sequestration of the lower lobe of the right lung.

As his heart failure seemed to be caused not only by pressure overload to the left ventricle following coarctation, but also by the volume load associated with the shunting effect of the pulmonary sequestration, we performed transcatheter balloon dilation of the coarctation and the origin of the aberrant subclavian artery, together with embolization of the aberrant pulmonary artery. His heart failure responded dramatically to these procedures.

On the assumption that the diameter of the reference vessel might determine the thickness of neointimal coverage of stents placed in the pulmonary arteries, we analyzed the angiograms of 28 lesions in 17 patients who underwent follow-up cardiac catheterization. Excluding 2 lesions where late stenosis was determined mainly by recoil of greater than 30%, we investigated the neointimal thickness of 26 lesions in 16 patients. Several factors that might contribute to late re-stenosis were also analyzed. Age and body weight at implantation ranged from 0.8 to 20 years, with a median of 6 years, and from 6.8 to 77.5 kg, with a median of 17.6 kg. Follow-up interval was from 6 to 15 months, with a median of 6 months.

There was a significant increase in diameter, as well as a reduction in pressure gradient, immediately after the implantation of stents. Although there was no significant difference between the achieved diameter and the diameter of the stent at follow-up, the diameter of the lesion at follow-up was significantly smaller than the diameter achieved by stenting. The increase in the pressure gradient at follow-up was slightly greater in 4 lesions where the late reduction in diameter was greater than 30% than in the 18 lesions where this was less than 30% (p = 0.05). The diameter of the reference vessel, and the diameter by stenting correlated with the late reduction in diameter. All lesions with diameter reduced greater than 30% had a reference diameter of less than 6.1 mm, and a diameter achieved by stenting of less than 6.5 mm. Late loss in luminal diameter directly correlated with the thickness of the neointimal coverage. In conclusion, close observation should be mandatory following implantation of stents in small pulmonary arteries.

Insufficiency of any of the four cardiac valves is a common cause of heart failure in children. Progression of ventricular dysfunction can be predictable, but requires thorough understanding of valvar disease. In valvar regurgitation, the heart has to cope with an increased volume of blood. The pathophysiological sequence is similar for both the right and the left heart. There is initially an increase in end-diastolic volume, followed by an increase in end-systolic volume, and at the end, a decrease in the shortening and ejection fractions. Different compensatory mechanisms and pathophysiologic adaptations develop to maintain the stroke volume for each type of valvar insufficiency, but heart failure eventually ensues. When symptoms of heart failure develop, irreversible ventricular dysfunction is often established, and outcome after surgery may ultimately be compromised. Discerning the optimal time for intervention, before irreversible ventricular dysfunction develops, is a key point in the management of regurgitant valvar heart disease.

Before paediatric cardiology emerged as a specialty in the mid 20th century, a body of literature had developed over centuries devoted to description of congenitally malformed hearts. In this review, we have selected highlights from such texts written during the period of 100 years from 1814 to 1914, demonstrating their potential relevance to controversies occurring during the twentieth century in the categorisation of such hearts. We begin in 1814, with the first wide-ranging book devoted to congenital cardiac malformations. We end with a publication from 1914, because it included an illustration of the first electrocardiogram in a text devoted to paediatric disease. As we will show, these works from the 19th and early 20th centuries reflect topics still relevant today, namely the aetiology of cardiac malformations, clinicopathologic correlations, attempts at classification, and lack of effective treatments. Attention to their content could have served to ameliorate controversies, some of them ongoing.

This Supplement to Cardiology in the Young represents the ninth annual supplement generated from the two meetings that compose “HeartWeek in Florida”. “HeartWeek in Florida”, the joint collaborative project sponsored by the Cardiac Center at the Children's Hospital of Philadelphia, together with All Children's Hospital of Saint Petersburg and the Congenital Heart Institute of Florida, averages over 1000 attendees every year and is now recognized as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the fetus, neonate, infant, child, and adult. “HeartWeek in Florida” combines the International Symposium on Congenital Heart Disease, now organised by All Children's Hospital and Johns Hopkins Medicine and entering its 12th year, with the Annual Postgraduate Course in Pediatric Cardiovascular Disease organised by Children's Hospital of Philadelphia and entering its 16th year. The theme of this supplement generated from the 2011 HeartWeek in Florida is “A Holistic Approach to Hypoplastic Left Heart Syndrome and Other Evolving Challenges in Paediatric and Congenital Cardiac Disease”. We would like to acknowledge the tremendous contributions made to medicine by Martin Elliott and Gil Wernovsky; and therefore, we dedicate this HeartWeek 2011 Supplement to them.

The present study was performed to identify the genotype of a hypertrophic cardiomyopathy family and investigate the clinicopathogenic characteristics and prognostic features of relevant genetic abnormalities. Target sequence capture sequencing was performed to screen for pathogenic alleles in a 32-year-old female patient (proband). Sanger sequencing was carried out to verify the results. Sanger sequencing was also performed on other family members to identify allele carriers. A survival analysis was carried out using published literature and our findings. We found that the proband and her son harboured a Gly716Arg sequence variant of the β-myosin heavy chain. Neither the proband’s father nor the mother were carriers of this sequence variant; thus, the mutation was classified as “de novo”. Further survival analysis revealed that female patients appear to have a longer life expectancy compared with males. Our study may provide an effective approach for the genetic diagnosis of hypertrophic cardiomyopathy.

Knowledge of normal aortic dimensions is important in the management of children with aortic disease. So as to define such dimensions, we undertook a retrospective review of clinical data and aortic cineangiograms from 167 subjects without aortic disease having a mean age of 3.67 years, with a range from 0.01 to 14.95 years. Amongst the patients, 56 were without detectable cardiac lesions, 66 patients had mild pulmonary stenosis, 30 were seen with Kawasaki disease, and 15 with small interatrial defects within the oval fossa. Aorto-grams were available in all. No patient had any hemodynamic derangement that would have affected the aorta during intrauterine life or childhood. Systolic dimensions were measured in the ascending and descending aorta at the level of the carina, at the transverse aortic arch distal to the brachiocephalic, of the left common carotid artery at its origin, at the transverse aortic arch distal to the left common carotid artery, at the aortic isthmus, and of the aorta at the level of the diaphragm. A regression analysis model was used to establish the range of predicted normal values, with their confidence limits, standardizing the values to height as the biophysical parameter having the highest correlation to aortic dimensions. Normal ranges were established for all the levels of measurement. The data should prove useful in identifying abnormalities of the thoracic aorta during childhood, and when assessing the outcomes of interventions.

Infundibular stenosis may develop secondary to ventricular septal defect, and transannular patch plasty can affect mortality and morbidity rates. Therefore, dextroposition of the aorta has been investigated in order to eliminate discrepancies in the literature. Figures and illustrations from the selected references have been investigated and “actual dextroposition of the aorta” has been evaluated as far as the aorta is visible. A careful examination of these figures revealed the following tips and pearls for accurate diagnosis of dextroposition of the aorta: Aorta and ventricular septal defect should be adjacent for a “true” dextroposition of the aorta; the plane where the aorta exits from the ventricle should penetrate the plane of the ventricular septal defect towards the right ventricle; if the aorta and ventricular septal defect intersect at one edge, the aorta may seem to be dextroposed; new diagnostic modalities are necessary to evaluate the actual dextroposition status of the aorta for the proper planning of treatment.

Cardiac rhabdomyomas represent the most common primary paediatric cardiac tumour and typically regresses over time in the majority of patients. Among those who are symptomatic, surgical resection or catheterisation procedures have traditionally proven effective. More recently, those invasive or challenging tumours have been successfully treated with mammalian target of rapamycin inhibitors, typically everolimus and sirolimus. This review outlines the current medical literature of the state-of-the-art medical treatment of these tumours. We specifically focus on dosing regimens, duration of therapy, and side-effect profiles of mammalian target of rapamycin inhibitors among this population. Although the majority of cases responded to mammalian target of rapamycin inhibition, standardised guidelines for dosing and duration of treatment remain to be defined.

Congenital coronary arterial abnormalities as isolated lesions are exceedingly rare. The electrocardiogram, while a reasonable adjunct in the diagnosis of coronary arterial abnormalities, should not supplant a good history and physical examination. Careful attention must be devoted to any signs or symptoms of ischaemic pain in the chest or syncope, which must not be overlooked. Exertional pain in the chest and exertional syncope should prompt an extensive evaluation by both the echocardiographer and the electrophysiologist. Clearance for participation in sports should be curtailed until a complete evaluation has ruled out the presence of any of the following disorders: a channelopathic mutation, a cardiomyopathy, or a congenital coronary arterial anomaly. Major abnormalities in the coronary arteries may present in the first few months of life or remain dormant until the exertional demands of adolescence unmask symptoms of myocardial ischaemia. Congenital coronary arterial anomalies may be analysed in the following major diagnostic groups: anomalous origin of the left coronary artery from the pulmonary artery, anomalous aortic origin of a coronary artery from the wrong aortic sinus of Valsalva, atresia of the left main coronary artery, myocardial bridges, and coronary arterial fistulas. The advent of state-of-the-art modalities of imaging seems, at times, to have supplanted the electrocardiogram in making the diagnosis of potentially serious coronary artery abnormalities, especially in asymptomatic patients. However, as is also the case for a detailed history and physical examination, the electrocardiogram provides a potentially insightful look at the coronary arteries. Furthermore, the past decade has witnessed an increase in the use of the electrocardiogram as a screening tool in the assessment of the risk of sudden cardiac death in athletes in high school.