Med. praxi. 2023;20(5):269-273 | DOI: 10.36290/med.2023.041

Sudden cardiac death and its prevention

MUDr. Alice Krebsová, Ph.D.¹, Mgr. Bc. Eva Kutílková, Ph.D.¹, prof. MUDr. Milan Macek, DrSc.²

¹ IKEM, Klinika kardiologie, Centrum dědičných kardiovaskulárních onemocnění, Praha, ERN GUARD Heart

² Ústav biologie a lékařské genetiky 2. LF UK a FN Motol, Praha, ERN ITHACA

A significant percentage of sudden cardiac death (SCD) in individuals under 50 years of age is caused by hereditary cardiovascular disease. Identifying these cases, performing post-mortem genetic testing and cardiac screening of direct relatives is the first step to primary prevention of cardiac death in survivors and requires multidisciplinary and multicentre collaboration.

Hereditary cardiovascular diseases include diseases of the heart muscle (cardiomyopathy), electrical diseases (arrhythmogenic syndromes) and hereditary diseases of the aorta and large vessels, where patients are at risk of premature cardiac arrest or acute dissection of large vessels.

Cardiogenetic examination is a complex interdisciplinary examination in which cardiologists, molecular and clinical geneticists, pathologists and psychologists participate.

General practitioners are often the first to be contacted by the bereaved and their recommendation is often crucial to the next fate of the relatives.

Communication between individual experts and teams of individual centres is absolutely essential to ensure care for patients with an often very rare form of hereditary disease with a risk of sudden cardiac death.

Keywords: hereditary cardiovascular diseases, genetic analysis, cascade family screening.

Received: September 1, 2023; Revised: October 10, 2023; Accepted: October 11, 2023; Published: December 19, 2023  Show citation