Abstract
Background: Hypertropic cardiomyopathy (HCM) is a primary disease of cardiac myocytes, diagnosed clinically by the presence of cardiac hypertrophy in the absence of any known cause. Over a dozen causal genes and several hundred mutations for HCM have been identified. Objective: The utilities of genetic testing in accurate diagnosis, prognostication and treatment of HCM are reviewed. Methods: The existing data are reviewed. Results/conclusions: There is considerable interest in genetic testing for HCM. However, heterogeneity of the causal genes and alleles has hampered the efforts to develop a simple comprehensive genetic screening test. At present, it is feasible to screen for the 5 most common causal genes, which collectively account for ∼ 60% of the HCM. Advances of deep resequencing technologies are expected to increase the yield considerably and, hence, increase the use of genetic testing in clinical practice. However, the utility of genetic testing for risk stratification is expected to be limited, as factors other than the causal genes also contribute to the development of the phenotype. A comprehensive approach that includes the information content of the causal mutations, the modifier genes and the non-genetic factors will be necessary for accurate risk stratification and genetic-based interventions.