title: Pulmonary valve stenosis and hemophilia A. Report of three cases and discussion of a possible genetic linkage.
abstract: We treated three unrelated patients with hemophilia A and congenital pulmonary valve stenosis. In two patients, the occurrence of the cardiac malformation was sporadic and in one familial. The coexistence of hemophilia A and pulmonary valve stenosis might suggest a genetic linkage for both disorders. Review of the literature supports the hypothesis that the inheritance of pulmonary valve stenosis is dominant and X-linked.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005799:Genes, Dominant; D008040:Genetic Linkage; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics; D011666:Pulmonary Valve Stenosis / Q000235:genetics*; D014960:X Chromosome