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Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by ventricular dilatation and impaired systolic function, and is a major cause of severe heart failure. Although familial occurrence of DCM has been reported occasionally, the frequency of familial aetiology has been underestimated in the past. Systematic examination of relatives show that probably > 25–30% of DCM cases are familial.1 In this context, it is relevant to discuss whether the rapid development of molecular genetics has allowed us to unravel the molecular defect(s) involved in the disease and led to major breakthroughs in the medical management of the disease.
Familial DCM
Various modes of inheritance have been reported including X-linked, autosomal recessive, and mitochondrial transmission, but the autosomal dominant forms are the most common.2 Although mutations in the cytoskeletal protein dystrophin were identified in 1993 as the cause of X-linked DCM as well as that of Duchenne and Becker type muscular dystrophy, the molecular substrate of inherited forms of DCM remained largely unknown until recently.3
To date, scientific evidence suggests that DCM is a highly heterogeneous genetic disease: two X-linked genes have been identified (dystrophin and tafazzin, the latter being responsible for infantile DCM and Barth syndrome) and …