Genetic screening of patients with hypertrophic cardiomyopathy — a new diagnostic strategy for risk stratification?

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disease of the heart muscle and its main characteristic is unexplained hypertrophy of the left and/or the right ventricle. HCM is the most common genetically determined cardiovascular disease and is prevalent in approximately in 1 of 500 of the population. The most serious complication of HCM is sudden cardiac death (SCD) which can be the first manifestation of the disease. However, there are other forms of benign prognosis which do not jeopardize patient’s health or life. The clinical symptoms of HCM are partly dependent on mutations in affected sarcomere genes. Different mutations in the same gene can present as malign with a high risk of SCD, while other mutations can be benign. The clinical symptomatology can also be influenced by other factors such as the presence of polymorphisms in other genes. Nowadays the aim of intensive clinical research is to access the contribution of molecular genetic methods in HCM diagnostics as well as in risk stratification of SCD. It is expected that genetic analyses will have an important consequence in the screening the relatives of HCM patients and also in the prenatal diagnostics and genetic counseling (Tab. 2, Fig. 1, Ref. 45). Full Text (Free, PDF) www.bmj.sk .