Hypertrophic cardiomyopathy (HCM) is an autosomal dominantly inherited structural disease of the heart muscle with a prevalence of approximately 1:500 in the Caucasian population. Hypertrophic cardiomyopathy is usually associated with an asymmetric increase in the muscle mass of the left ventricle with interventricular septum involvement, resulting in characteristic changes in the ECG (Q wave, ST segment and P wave). The phenotypic manifestation of hypertrophic cardiomyopathy varies from benign forms with incomplete penetrance to malignant forms with a high risk of sudden cardiac death from childhood. The average life expectancy of those affected is 66 years, with the prognosis depending on the underlying molecular cause.
Approximately 2,000 pathogenic variants in over 40 different genes, most of which code for cardiac structural proteins, have been identified to date in connection with HCM. About 90% of these variants are found in the genes for the heavy chain ß-myosin (MYH7), myosin binding protein C (MYBPC3), troponin T (TNNT2) and troponin I (TNNI3). Routine diagnostics can currently detect pathogenic variants in approximately 60% of all HCM cases. Deletions of single exons or entire genes are very rare (<1% of all cases) and are also investigated here.
Rupp et al. 2018, Clin Res Cardiol doi.org/10.1007/s00392-018-1354-8 / Walsh et al. 2017, Genet Med 19:192 / Ho et al. 2015, Cardiovasc Res 105:397 / Haas et al. 2014, Eur Heart J 35:2733 / Lopes et al. 2013, J Med Genet 50:228 / Maron et al. 2012, J Am Coll Cardiol 60:705 / Chanavat et al. 2012, Eur J Hum Genet 55:163 / Ackerman et al. 2011, Europace 13:1077 / Millat et al. 2010, Eur J Med Genet 53:261 / Soor et al. 2009, J Clin Pathol 62:226 / Morita et al. 2008, N Engl J Med 358:1899 / Morita et al. 2006, Circulation 113:2697