Congenital heart disease is known to occur in greater than 90% of patients with trisomy 18, with ventricular septal defect and patent ductus arteriosus being the most frequently encountered lesions. The presence of congenital polyvalvular disease in trisomy 18 as assessed by pathological specimens has also been noted. Echocardiograms were obtained in 15 patients with trisomy 18 and in 12 infants with dysmorphic features, who did not have chromosomal abnormalities, in order to obtain an echocardiographic assessment of the frequency of polyvalvular disease in living patients with trisomy 18. In this series all patients with trisomy 18 had structural defects (seven ventricular septal defects, three patent ductus arteriosus, five both). All trisomy 18 patients also had congenital polyvalvular disease with six patients having four affected valves, five patients having three affected valves, and four patients with two affected valves. In patients with normal chromosomes, two had a single abnormal valve, and structural lesions included patent ductus arteriosus (3), ventricular septal defect (2), pulmonary atresia with ventricular septal defect (1), transposition of the great arteries (1), and atrioventricular canal with patent ductus arteriosus and coarctation (1). In infants with features suggestive of trisomy 18, structural cardiac lesions are a nonspecific finding. However, the presence of polyvalvular disease may be a more specific and useful adjunct to other clinical investigations pending chromosomal analysis for definitive diagnosis.

Thirty-one children with postoperative coarctation of the aorta underwent maximal graded bicycle ergometry using an electronically braked ergometer and the James protocol; 18 also underwent expiratory gas measurement using a mass spectrometer. Twenty-two age- and gender-matched normal subjects were used as a control group. The mean age at operation was 41 months and the mean age at evaluation was 134 months (mean follow-up interval 93 months). The original surgical repair was subclavian flap repair in 8 patients, end to end anastomosis in 21, patch aortoplasty in 1 patient and tubular graft in 1. Patients exercised until exhaustion and maximal exercise variables were obtained. The maximal voluntary peak heart rate was 183 beats/min (94.6% of predicted value), indicating excellent effort. Mean power was 111% of predicted value and, when measured, maximal oxygen consumption was 89% of predicted value with an anaerobic threshold at 63 +/- 3.5% of exercise time. The observed work variables were not different from values in the control group and were not affected by the type of repair. The mean peak systolic blood pressure was 152 +/- 7.6 mm Hg versus 147 +/- 5.7 mm Hg in the control group (p = NS). Patients who had associated intracardiac lesions had significantly lower maximal oxygen consumption (85 +/- 3% vs. 98 +/- 4% of predicted value). The results suggest that adequate cardiopulmonary function, normal or above average work capacity and normal exercise systolic blood pressure can be obtained in children with satisfactory repair of coarctation of the aorta performed before school age.

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Hereditary atrioventricular conduction defect is an uncommon cause of acquired complete heart block in children. We report a father and son, both of whom presented with seizures as the initial manifestation of acquired complete heart block and required permanent pacemaker implantation. A review of the variations of this entity and the histopathological findings of previously reported cases is presented. Family members of patients with acquired heart block of uncertain etiology should be examined for the presence of conduction abnormalities that may progress to complete heart block.