Abstract
Sudden cardiac death (SCD) is an unexpected and dramatic event. It draws special attention especially in young, seemingly healthy athletes. Our scientific paper is based on the death of a young, 23-year-old professional footballer, who died on the football field after a two-year history of cardiac symptoms. In this study we analyzed clinical, ECG and laboratory data, as well as results of genetic testing analysis in family members. To elucidate potential genetic etiology of SCD in this family, our analysis included 294 genes related to various cardiac conditions.
Highlights
Definition of Sudden Cardiac DeathSudden cardiac death (SCD) is an unforeseen, unexpected heart function loss that occurs within 1 h of symptom onset or within 24 h of last being seen alive [1]
ABCG8 gene is related to autosomal recessive sitosterolemia, the disorder of cholesterol metabolism characterized by the accumulation of cholesterol in the skin, tendons, and various tissues
ABCG8 gene polymorphism may contribute to the rapid onset of Coronary artery disease (CAD) in patients suffering from familial hypercholesterolemia [27, 28]
Summary
Sudden cardiac death (SCD) is an unforeseen, unexpected heart function loss that occurs within 1 h of symptom onset or within 24 h of last being seen alive [1]. SCD may occur after a long history of cardiac disease, but it can be the first manifestation of genetic heart disease in a seemingly healthy person [1, 2]. SCD in the Population: Epidemiology and Etiology. Coronary artery disease (CAD) is responsible for 70-75% of all SCD cases in the population over the age of 35 [2, 5]. The etiology of SCD varies and is Sudden Cardiac Death Genetic Markers highly dependent on the demographic characteristics of the patients included in the studies [7]. The etiology of SCD in this group includes hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), myocarditis, and different kinds of arrhythmogenic disorders including Brugada syndrome (BrS), congenital long-QT syndrome (LQTS), and catecholaminergic polymorphic ventricular tachycardia (CPVT) [6, 9]
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