Central Illustration.

Sudden Arrhythmic Death Syndrome: Genetic Testing and Clinical Screening

(A to E) Genetic testing via next-generation sequencing in 302 sudden arrhythmic death syndrome (SADS) cases identified pathogenic and likely pathogenic variants in 13% of cases. Clinical screening of relatives in 82 families found 35 relatives from 21 families with a clinical diagnosis of a primary electrical disease: Brugada syndrome (BrS); catecholaminergic polymorphic ventricular tachycardia (CPVT); and long-QT syndrome (LQTS); there was overlap between molecular and clinical diagnosis in 7 families. Combining molecular autopsy with clinical evaluation increased diagnostic yield in surviving families to 39%. VUS = variant of unknown significance.