The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. However, since the establishment of the Bardet-Biedl syndrome as a separate clinical entity, cardiac involvement has not been evaluated in this disorder. We have performed echocardiographic studies on 22 patients with the Bardet-Biedl syndrome from three extended, highly inbred Bedouin families. In addition to previously reported congenital heart defects we have observed hypertrophy of the interventricular septum and dilated cardiomyopathy. Our findings of cardiac involvement in 50% of the cases suggest that echocardiographic examination should be included in the clinical evaluation and follow-up of patients with Bardet-Biedl syndrome.

This study is presented to identify and characterize the spectrum of the cardiovascular anomalies in children presenting with Williams-Beuren syndrome and cardiovascular anomalies at The Hospital for Sick Children, Toronto from 1966 to 1988. Forty-nine children were diagnosed and followed. The female to male ratio was 1.2:1. The age ranged from 1 month to 14 years at the time of diagnosis (mean 39 months), and follow-up periods were from 9 months to 20 years (mean 10 years). All patients having the typical features were also evaluated by geneticists. Based on cardiovascular findings four groups were identified. Group 1 had isolated supravalvular aortic stenosis (SVAS) (28 patients). There was follow-up in 24 of these children. Six had worsening of supravalvular narrowing and underwent surgery. One showed an increased gradient from 10-40 mmHg during 7 years. Seventeen had mild narrowing and showed no progression over a period of 75 months. Group 2 had isolated pulmonary artery branch stenosis (8 patients). Seven had mild narrowing which remained unchanged over a mean period of 16 months and one underwent surgery. Group 3 had combined lesions (11 patients). Six showed increased left-side narrowing, while right-side obstruction remained static or improved. Five showed improvement in narrowing in both outflow tracts. Five underwent surgery. Additional cardiovascular anomalies included peripheral artery stenosis in two patients, coronary artery abnormalities in three, mitral valve prolapse in three, and coarctation of the aorta in two. Group 4 had isolated lesions. One patient had isolated coarctation of the aorta and one isolated mitral prolapse.(ABSTRACT TRUNCATED AT 250 WORDS)

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So-called 'absent pulmonary valve syndrome' is a rare cardiac malformation, usually associated with tetralogy of Fallot. Congenital absence of the leaflets of the pulmonary valve is less common when the ventricular septum is intact. Characteristic features of the syndrome include dysplasia or absence of the pulmonary valvar leaflets, permitting severe pulmonary regurgitation, and aneurysmal dilation of the pulmonary arteries. The purpose of our study was to review our experience with patients diagnosed as having the absent pulmonary valve syndrome, and to describe their clinical presentation, natural history, and outcome. We reviewed retrospectively data from 18 patients with absent pulmonary valve syndrome, 10 boys and eight girls, treated between March 1983 and May 2003. We identified two groups of patients, one made up of 11 patients with a ventricular septal defect, in whom the morphology of the subpulmonary outflow tract was phenotypic for tetralogy of Fallot, and another group, with seven patients, having an intact ventricular septum. Family history of congenital heart disease was common only in patients with ventricular septal defect, being found in 73%, all of whom were diagnosed during infancy with variable respiratory distress. Diagnosis was delayed in 43% of the patients with an intact ventricular septum. Cardiac surgery was performed in eight patients with ventricular septal defect (73%), compared to only two patients (28%) with an intact ventricular septum. Overall mortality was 28%, with five patients dying. Although our sample was small, two clinical patterns emerged depending on the presence or absence of a ventricular septal defect. Patients with a ventricular septal defect and phenotypic features of tetralogy of Fallot have a strong family history of congenital cardiac disease, develop respiratory symptoms during infancy and exhibit a variable prognosis, despite cardiac surgery. Patients with an intact ventricular septum are usually asymptomatic, present later in life, and show a relatively benign prognosis.