Perspectives on current recommendations for genetic testing in HCM

[first paragraph of article] Hypertrophic cardiomyopathy (HCM) is defined as a primary cardiac muscle disease characterized by the presence of myocardial hypertrophy in the absence of apparent causes for the observed degree of hypertrophy . This definition includes both familial and sporadic (apparently non-familial) forms of the disease. HCM is usually considered as a genetically determined condition. Current genotyping technologies allow for the identification of the genetic causes of the disease in 50 to 70% of the patients who fulfill clinical diagnostic criteria. However, the etiology of 30 to 40% of the cases remains elusive . This review is focused on the current role of genetic testing in HCM, and the potential benefits of the identification of the genetic etiology of the disease.