Hypertrophic cardiomyopathy: etiopathogenesis, sudden cardiac death risk stratification and other diagnostic peculiarities

Ričardas Kundelis1, Kajus Merkevičius1, Pijus Ruokis1

1 Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania


Cardiomyopathy is a disease of the heart muscle defined as dysfunction and alteration in the myocardial structure that cannot be explained by another primary disease. Hypertrophic cardiomyopathy (HCM) is the most common autosomal dominantly inherited pathology affecting cardiac sarcomeres. Based on epidemiological data, the incidence of this pathology is known to vary between 0.1% and 0.2% although the available genetic diagnostic data suggest that HCM often remains undiagnosed and the true numbers are higher. The diagnosis of HCM is not specific. The disease is confirmed by process of elimination and by determination of the thickness of the LV during visual examination. This article reviews the classification, prevalence, etiology, pathophysiology, diagnostic methods, and principles of sudden cardiac arrest risk stratification in cases of HCM.

Keywords: hypertrophic cardiomyopathy; phenocopies; sudden cardiac death.