Is dilatative cardiomyopathy a genetically transmitted disease?

Česká verzia

Authors: L. Špinarová; H. Pavelčíková
Authors place of work: I. interní kardioangiologická klinika LF MU a FN U sv. Anny, Brno
Published in the journal: Kardiol Rev Int Med 2007, 9(4): 218-221
Category: Editorial

Summary

Dilatative cardiomyopathy (CMP) is a genetically heterogeneous disease. Its genetic transfer is detectable in 20–25 % of patients in controlled studies. The most frequent mutations in dilatative CMP are those in the cytoskeleton and the cellular membrane, while the dominating disorders in hypertrophic CMP are those in the region of the sarcomere, i.e. beta–myosin and troponin T. The heredity of genetic mutations is of autosomal dominant nature (lamins A/C, actin, desmin) or of recessive nature (sarcoglycans), heredity is linked with the X chromosome in the case of dystrophin, emerin and tafazzin, and mitochondrial defects are rare. A peripheral muscle disorder may exist concomitantly in the case of dilatative CMP: Duchenn’s and Becker’s muscle dystrophy or limb gurdle muscular dystrophy or Emery-Dreifuss muscular dystrophy. Autosomal forms are caused by mutations in the gene for lamins A/C and the X-bound form was associated with mutations in the gene encoding emerin. Polymorphisms of some genes or of HLA–DR, TGF-beta (transforming growth factor) or PAF (platelet activating factor) may be associated with a higher risk of developing dilatative CMP.

Keywords:
dilatative cardiomyopathy – muscular dystrophies – gene mutations

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