To study the inheritance of idiopathic dilated cardiomyopathy, we investigated a large kindred in which 11 young male members had definite or possible evidence of the disorder. The five affected males for whom we had complete clinical data survived for 5 to 12 months after the onset of symptoms, which occurred early in life (ages 15 to 21 years). In six other males, clinical data were incomplete but suggested possible cardiomyopathy. Three mothers of affected males were given a diagnosis of definite, and two of possible, late-onset dilated cardiomyopathy. These women presented in their 40s with atypical chest pain, and progressive congestive heart failure developed gradually over a period of 10 or more years. X-linked inheritance of dilated cardiomyopathy is suggested in this family by the early onset in males, late onset in females, and no evidence of male-to-male transmission. The late onset of the disease in females, in contrast to the early onset in hemizygous males, is compatible with heterozygosity for the mutant allele. Since most cases of genetically lethal X-linked syndromes appear to be sporadic, for every case of "idiopathic" dilated cardiomyopathy in which X-linked inheritance can be confirmed from family information, it is possible that there are several nonfamilial cases due to a mutation at the same locus.
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