Frequency of congenital heart defects in patients with hemophilia.

Most structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may postulate that vascular events, such as hemorrhage in the developing embryo, could influence morphogenesis of the heart. One method of studying this hypothesis is to determine the frequency of CHD in persons with heritable bleeding diatheses and their families. We reviewed retrospectively medical and family histories of 120 hemophilia A and 14 hemophilia B patients seen in our Genetics Department. The family histories included 1,126 maternal relatives of hemophiliac patients. We also reviewed the family histories of 138 patients with X-linked disorders who did not have bleeding diatheses or syndromes associated with CHD; these histories included 960 maternal relatives. There was one confirmed case of a CHD in 134 hemophilia patients, giving a frequency of 0.75% compared to 0.8% in the general population at birth. There was no apparent difference in the frequency of CHD in hemophilia A and B patients compared to the general population or in the relatives of hemophilia patients as compared to control individuals.