Non-sarcomeric hypertrophic cardiomyopathies in adults
Authors:
T. Paleček 1; P. Kuchynka 1; E. Němeček 1; M. Mašek 2; M. Elleder 3; T. Honzík 4; A. Linhart 1
Authors‘ workplace:
II. Interní klinika – klinika kardiologie a angiologie, 1. LF UK v Praze a VFN v Praze
1; Radiodiagnostická klinika, 1. LF K v Praze a VFN v Praze
2; Ústav dědičných metabolických poruch, 1. LF UK v Praze a VFN v Praze
3; Klinika dětského a dorostového lékařství, 1. LF UK v Praze a VFN v Praze
4
Published in:
Kardiol Rev Int Med 2011, 13(4): 210-220
Overview
Hypertrophic cardiomyopathy is the most common cardiovascular disease of genetic origin. In the majority of cases it is an autosomal dominant hereditary disease marked by mutation of one of the genes for sarcomeric proteins and so-called sarcomeric hypertrophic cardiomyopathy. In approximately one third of patients, however, it is not possible to prove the cause of the mutation in the gene responsible for coding the sarcomeric protein. Apart from the hitherto undescribed sarcomeric mutations, the hardening of the walls of the myocardium could originate in a different genetic abnormality, the substance of which is, in the majority of cases, an enzymatic dysfunction at some level of cellular metabolism. These forms of hypertrophic cardiomyopathy are generally known as non-sarcomeric phenocopies. The authors of this report give an overview of the most frequent types of non-sarcomeric hypertrophic cardiomyopathy found in adults. A detailed study is made of the issue of Fabry disease (FCH), Danon disease (DCH), PRKAG2 syndrome, mitochondrial hypertrophic cardiomyopathy and cardiomyopathy during Friedreich’s ataxia.
Keywords:
hypertrophic cardiomyopathy – non-sarcomeric phenocopy – Fabry disease – Danon disease – PRKAG2 syndrome – mitochondrial disorders – Friedreich’s ataxia
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