Key result
Isolated congenital heart disease exhibits possible X-linked recessive inheritance across three generations of one family.
Case Report (n=6)
Four male members of a family are known to have congenital mitral and aortic insufficiency, a fifth male has congenital mitral insufficiency only, and a sixth male had congenital heart disease by history. The involved males comprised all males in three generations of this family. Chromosomal and dermatoglyphic studies of the two living affected males are normal. The involvement of males in this family is best explained on the basis of X-linked recessive inheritance. To our knowledge, this is the first report of possible X-linked inheritance of isolated congenital heart disease.
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Monteleone et al. (1969) conducted a case report in Congenital heart disease (mitral and aortic insufficiency) (n=6). X-linked recessive inheritance was evaluated on Presence of congenital heart disease. Isolated congenital heart disease may follow an X-linked recessive inheritance pattern, as evidenced by its presence in six males across three generations of a single family.
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