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Genetic variants and unexplained sudden cardiac death in adults

JAMA Jun 09, 2021

Guo L, Torii S, Fernandez R, et al. - Researchers undertook this genetic association study to analyze cases of unexplained sudden cardiac death (SCD) to ascertain the frequency of pathogenic or likely pathogenic (P/LP) genetic variants of inherited cardiomyopathies (CMs) and arrhythmia syndromes. A total of 413 adults who had unexplained SCD were included. The presence of P/LP genetic variants consistent with inherited CMs or arrhythmia syndromes was found in nearly one-fifth of individuals, despite having normal cardiac findings. These clinically significant variants were mainly related to hypertrophic cardiomyopathy, dilated cardiomyopathy, and long QT syndrome. Given the presence of P/LP variants in nearly 20% of patients with SCD, a possible contribution of genetics to a significant number of cases of unexplained SCD is indicated. The observations concerning both the link of unexplained SCD with CM genes and race-specific genetic variants indicate novel avenues of study for this poorly understood entity.

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