X-Linked Dilated Cardiomyopathy

Abstract

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.

Danon disease presenting with dilated cardiomyopathy and a complex phenotype

“…X-linked dilated cardiomypathy (XLCM) was first described by Berko and Swift in a large family characterized by cardiomyopathy and high serum creatine-kinase (CK) in males, and slow progression of the disease in females (Berko and Swift 1987). Linkage to the X-chromosome was shown in this family and a second family, XLCM-2 (Towbin et al 1993).…”

Familial dilated cardiomyopathy

“…36 The possibility of polygenic inheritance (that is, traits that result from mutations in any of several different genes) have been proposed in another series of families. '5 Finally, mitochondrial inheritance of mitochondrial abnormalities has been found in some families.…”

Cellular and biomolecular mechanisms in dilated cardiomyopathy

“…These patients do not usually have neuromuscular compromise but lack dystrophin in the myocardium and have generally high serum levels of creatine kinase 43 . Inheritance is linked to the X chromosome and can be dominant or recessive 51 . Sporadic cases are reported 50 .…”