Genetics of Fallot's tetralogy.

Abstract

A genetic analysis of 126 correlative cases of Fallot's tetralogy has been performed. The isolated cases showed male predominance and a higher risk for the sibs of female cases, suggesting a multifactorial causative mechanism. Dermatoglyphs were typical, with a high number of whorls on the fingers and a tendency to distal t triradius. There were 13 cases belonging to polymal- formative syndromes, such as mongolism, Turner, triplo-X, among others. Knowledge of inheritance mechanisms in heart disease has been considered as one of the four major topics for cardiac research in the seventh decade of this century (Shirley Smith, I970). While the genetics of ischaemic heart disease and hypertension is by no means unimportant, congenital heart malformations represent the main field open to investigation.