Yield of molecular autopsy in sudden cardiac death in athletes: data from a large registry in the UK.
Gherardo FinocchiaroDavide RadaelliDavid C JohnsonRaghav T BhatiaJoseph D WestabyStefano D'ErricoMichael PapadakisSanjay SharmaMary N SheppardElijah R BehrPublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2024)
The yield of MA in athletes who died suddenly is 17%. In SADS cases, clinically actionable variants were found in cardiomyopathy-associated genes and not in channelopathy-associated genes. Arrhythmogenic cardiomyopathy is a common cause of SCD in athletes, and one in four decedents with this condition had a clinically actionable variant in FLNC and TMEM43 genes.