FACTORS IN THE AeTIOLOGY OF PULMONARY STENOSIS

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Abstract
Inquiries were made about the families of 125 patients with pulmonary stenosis in an attempt to find genetic or environmental factors that might help to explain its etiology. Many of them[long dash]21% and still 9% if those with ventricular septal defect were omitted[long dash]had other malformations of the heart, even though subjects with Fallot''S tetralogy were excluded. Noncardiac malformations also were present in nearly 13%. A cardiac malformation, nearly always pulmonary stenosis, was present in 2.2% of the sibs of the subjects, much more than would be expected by chance. This seemed to be the case also for the small number of children, but not for the parents of the subjects. There is some evidence that the number of first-cousin marriages between the parents is more than would be expected by chance. There were more fourth and later children with pulmonary stenosis born to mothers of all ages, and especially to those aged 35 and over, than would be expected (24 instead of 18.3). In neither group was the excess large enough to be significant. Mean paternal age exceeded mean maternal age by 3.48 years, the largest difference we have found in our groups of congenital heart disease. There is no great difference in the sex incidence of pulmonary stenosis. The boys with pulmonary stenosis were slightly lighter than their normal brothers, and the girls were slightly heavier than their normal sisters, but neither difference was significant. More boys with pulmonary stenosis were born in the July to September quarter[long dash]three times as many as in April to June. The differences for the girls were less, though nearly half were born between December and March. These findings need confirmation from large numbers.