A Family Study of Aortic Stenosis

Abstract

elastosis is also associated with aortic stenosis. Calcified aortic stenosis, important in adults, is hardly ever seen in children. Congenital aortic stenosis may also be associated with non-cardiac abnormalities in certain genetic syndromes; for example, Marfan's syndrome and von Recklinghausen's disease*. Supravalvar stenosis has recently been reported as part of a stenosis in which there is also mental retardation and a characteristic facial appearance (Beuren, Apitz, and Harmjanz, I962). Aortic stenosis has been found associated with idiopathic hypercalcaemia in children. Black and Bonham Carter (I963) have presented several examples of aortic stenosis associated with the facies of severe infantile hypercalcaemia. The incidence of congenital heart disease among all live births probably approaches i % (Richards, Merritt, Samuels, and Langmann, i955), and the incidence of aortic stenosis among all cases of congenital heart disease is about 3 % (Wood, I956; Keith et al., I958); therefore approximately I in 3,000 tO I in 4,000 live births have aortic stenosis.

A family study of Fallot's tetralogy.

“…As a result, recent years have seen the emergence of several family studies, conducted to investigate the hereditary basis of different types of heart defect, persistent ductus arteriosus (Polani and Campbell, 1960), coarctation of the aorta (Campbell and Polani, 1961a), atrial septal defect (Campbell and Polani, 1961b;Nora, McNamara, and Fraser, 1967;Williamson, 1969), ventricular septal defect (Campbell and Goodwin, 1965), congenital aortic stenosis (Zoethout, Bonham Carter, and Carter, 1964), and atrioventricular defects (Emanuel et al, 1968). The aggregation that these family studies show is repeated in the present report.…”

Causes of malformations of the heart.

“…I regret that I have not found the time to make similar inquiries about the families of patients with congenital aortic stenosis, because I have seen a mother and son with this, where her father and uncle were thought to have the same condition ; two brothers and in another family two sisters, all with congenital aortic stenosis (Campbell, 1959) ; and a boy aged 16 with congenital aortic stenosis, whose first cousin died when 11, probably with the same condition. Here too there may be a relatively high proportion of familial cases, though Zoethout et al (1964) found no example of an affected parent.…”

“…and 1.9 for Fallot's tetralogy, except for P.V.S., where it was 2.8; the average for all the groups was 1.7%. Zoethout et al (1964) have made similar inquiries about 126 subjects with congenital aortic stenosis. They found 4% of the sibs had malformations of the heart, most often the same as in the propositi.…”

Pulmonary stenosis, cafe-au-lait spots, and dull intelligence.

“…Comment No attempt has been made to read all the voluminous literature on VRD and other syndromes associated with cafe-au-lait spots, but a review of the titles and a perusal of some of the articles of the past 40 years have revealed only 3 references to possible or probable congenital heart disease (Carol, Godfried, Prakken, and Prick, 1940;Crowe et al, 1956;Zoethout, Bonham Carter, and Carter, 1964). These concern cases of coarctation, congenital heart block, 2 undiagnosed cardiac lesions, and aortic stenosis occurring in patients with classical VRD.…”