Genotype‑ phenotype correlation and risk stratification for sudden cardiac death in familial hypertrophic cardiomyopathy – a case study

Czech version

Authors: A. Kilianová ^1,2; M. Špinarová ¹; L. Špinarová ¹; I. Grochová ¹; V. Feitová ^2,3; J. Krejčí ^1,2
Authors‘ workplace: I. interní kardioangiologická klinika LF MU a FN u sv. Anny v Brně ¹; Mezinárodní centrum klinického výzkumu, FN u sv. Anny v Brně ²; Klinika zobrazovacích metod LF MU a FN u sv. Anny v Brně ³
Published in: Kardiol Rev Int Med 2014, 16(6): 501-504
Category: Cardiology Review

Overview

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease with a prevalence of 1 : 500. In familial cases the inheritance is autosomal dominant with non‑complete penetrance and variable expression; however, it can also be caused by de novo mutations. The heterogeneity of both its presentation and prognosis from case to case largely complicates clinical management, and therefore the disease often represents a dilemma for primary care clinicians as well as cardiologists. An estimation of sudden cardiac death risk is an integral part of clinical management and the stratification guidelines are continuously developing. We report on a case of familial HCM in two brothers with the same gene mutation, with very different clinical presentations and consequences.

Keywords:
familial hypertrophic cardiomyopathy – genetics – MYBPC3 – mutation – sudden cardiac death

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