Familial pulmonary stenosis with underdeveloped or normal right ventricle.

Abstract

A family with 3 cases ofpulmonary stenosis with underdeveloped or normal right ventricle is described. In the family there have also been some spontaneous abortions and many infant deaths, and it seems possible that these were also related to congenital cardiac abnormalities. Recognized syndromes with pulmonary stenosis and reports on familial occurrence of this malformation are reviewed. The cases reported in this paper differfrom these previously described syndromes. The possibility of sex-influenced monogenic inheritance is discussed.The aetiology of congenital malformations of the heart is largely unknown. It is recognized that genetic factors are responsible for about io per cent of all malformations, chromosomal aberrations for about 5 per cent, and environmental factors for about I0 per cent, leaving 75 per cent of cases with no apparent cause (Rowe and Mehrizi, I968). In order to gain further knowledge of inheritance mechanisms in congenital heart disease, it is useful to draw attention to familial forms of congenital heart disease, seldom or not previously described. We have had the opportunity of studying a family in which three children had pulmonary stenosis with underdeveloped or normal right ventricle. Case reportsThe pedigree of the family is shown in Fig. i. The propositus is III-20. We were informed that there had been many infant deaths on the patemal side of the family (II-3, II-4, II-8, III-12, and III-I7), and that at least two of these infant deaths had occurred because of congenital heart malformations (III-12 and III-I7). m-20 (Fig. 2) A girl born in October I972, the second of two sibs. A sister, older by one year, is healthy. The mother had a spontaneous abortion in the third month of a previous pregnancy. The father was 35 years and the mother 33 years old. Pregnancy was uncomplicated. In the neonatal period there was respiratory insufficiency with cyanosis and feeding difficulties.Clinical examination showed a dysmature infant with a short neck, a broad forehead, and severe myopia.There was a high-frequency, grade 3 systolic murmur with maximum intensity in the left third intercostal space at the sternal border. The murmur was heard in the neck and on the back. Electrocardiogram showed left anterior hemiblock. Radiography of the thorax revealed no enlargement of heart shadow and slightly decreased pulmonary vascular markings. There were no signs of heart failure. The psychomotor development was somewhat retarded, and an ophthalmological examination revealed a very serious myopia.When the patient was 4 months old cardiac catheterization was performed. This revealed a common atrioventricular canal with a slight pulmonary stenosis and an underdeveloped right ventricle (Table i).Since then the psychomotor development has been delayed. At 3 months she could fix on objects for short periods, and at 6 months she could look at her hands, follow objects near her eyes, and gain visual contact with others. At 9 months of age she was not yet able to sit alone. She thrived well for the first 6 mon...

Congenital Cardiac Malformations

“…Familial cases of isolated pulmonary valvular stenosis have been reported. [44][45][46] Empiric recurrence risks for cardiac malformations in siblings vary from 1.5% to 2.7% (table 2-1).In one series, approximately 1/3 of the sibling recurrences were concordant (PVS) (table 2-2). The risk of cardiac malformations in offspring of an affected parent varies from zero to 3.6% (table 2-4).…”

Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction

“…Nonsyndromic familial right‐sided valve anomalies have only been described in a few small families. PS has been reported in some families with clear autosomal dominant inheritance [David, 1974; Ciuffo et al, 1985], and in some families with unknown mode of inheritance [Coblentz and Mathivat, 1952; Lamy et al, 1957; McCarron and Perloff, 1974; Klinge and Laursen, 1975; El‐Said et al, 1979; Udwadia et al, 1996]. PS combined with ASD in a large pedigree has been shown to be due to a mutation in the GATA4 gene [Garg et al, 2003].…”