[Genetic tests in hypertrophic cardiomyopathy: Benefits, limitations, and applications in clinical practice]

Hypertrophic cardiomyopathy is the most common monogenic heart disease. Its phenotypic expression is quite variable. In up to 60% of the cases, mutations are described in the genes coding for cardiac sarcomer proteins. Massive sequencing of deoxyribonucleic acid makes it possible to discover new genes responsible for the disease, but it has the disadvantage of discovering numerous variants of uncertain significance in these patients. The strategy used, especially when they do not segregate with the disease, is one of the challenges of genetics. Pathogenicity criteria may help to catalogue this variant. The genetic tests on the index case a diagnosis to be made, and the possibility of cascading to first degree relatives. The presence or not of a positive genotype in the relatives will determine the subsequent follow-up guidelines. The appearance of a positive genotype is a poor prognosis regardless of the type of mutation.