Abstract
An epidemiologic study of congenital heart disease (CHD) is in progress in the Baltimore-Washington area of 85,000 annual births. Infants with CHD are studied in comparison to a representative sample of the birth cohort. Family histories of 696 cases and 908 controls reveal heritable blood disorders (HBD) in 1% of CHD infants and/or parents, including hemophilia, von Willebrand's disease (v. W's), spherocytosis, thalassemia and sickle cell disease (SCD); only SCD occurred in 2 controls. Additional cases gathered from pediatric cardiologists and the literature suggest that transposition of the great arteries and valve lesions are predominant with HBD. An etiologic association is biologically plausible: cyanotic and acyanotic CHD occur with various coagulopathies and with familial fibrinogen and coagulation factor deficiencies; v. W's is linked with mitral valve prolapse and teleangiectasias.
Two possible morphogenic mechanisms include a gene induced alteration of early cardiac endothelium which also secretes factors VIII and v. W's (Jaffee, E.A., N, Engl. J. Med. 296:377, 1977) and/or alterations of osmosis of embryonic blood causing the teratogenic "edema syndrome" (Grabowski, C.T., J. Exp. Zool. 157:307, 1964). The studies suggest HBD as a potential risk factor for CHD.
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Ferencz, C., Rubin, J., McCarter, R. et al. BLOOD DISORDERS AND CARDIAC MORPHOGENESIS. Pediatr Res 18 (Suppl 4), 304 (1984). https://doi.org/10.1203/00006450-198404001-01266
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DOI: https://doi.org/10.1203/00006450-198404001-01266