The Chromosomes in Heart Disease

Abstract

At present the etiology of congenital heart disease remains unexplained. The findings of normal maternal ages, fewer associated anomalies, and normal chromosomal patterns have only excluded visible chromosomal aberrations as the cause of these usual heart malformations. The same observations, however, are entirely in keeping with their origin from various types of structural heterozygosity which may arise from reciprocal translocation, insertion, deletion, or duplication. Carleton and associates tentatively concluded that the most likely etiologic factor in familial types of congenital heart disease is a single, recessive, autosomal gene. The consistency with which the identical cardiac malformation occurs in cases of familial congenital heart disease appears to argue more strongly for a genetic (mutational) origin than for an environmental one.