Why the study?
Sudden cardiac death is an unexpected event in young, seemingly healthy athletes, motivating evaluation of potential genetic etiology in affected families.
Comprehensive genetic testing in a family with a history of sudden cardiac death identified multiple variants of unknown significance but no definitive pathogenic variants, highlighting the ongoing challenges in the genetic diagnosis of SCD.
VUS without pathogenic variants limit actionable family screening after SCD; leaves open refined classification and functional studies.
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.
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Primorac et al. (2021) studied this question.
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