КЛИНИЧЕСКИЙ СЛУЧАЙ БИВЕНТРИКУЛЯРНОЙ АРИТМОГЕННОЙ КАРДИОМИОПАТИИ, АССОЦИИРОВАННОЙ С МУТАЦИЕЙ В ГЕНЕ DSG2

Abstract

This article describes clinical observation over a patient with a biventricular form of arrhythmogenic cardiomyopathy associated with a mutation in DSG2 gene. The morphological realization of this mutation is associated with fibrous-fat replacement of the myocardium of both ventricles of the heart, which is clinically manifested by the development of life-threatening ventricular arrhythmias and a high risk of biventricular heart failure with a tendency to a progressive decrease in myocardial contractility. The affect on young people of working age, hereditary determinism and an unfavorable prognosis of survival actualizes the importance of diagnostic alertness in the examination of young patients with a clinical picture including ventricular arrhythmias, presyncope, syncope conditions and sudden cardiac death. The main issues of diagnosis, criteria for diagnosis in accordance with the Padua criteria (2020), current principles of treatment and prevention of sudden cardiac death are considered.