Arrhythmias & electrophysiology
Yield of molecular autopsy in sudden cardiac death in athletes: data from a large registry in the UK
Authors' conclusion
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.
Study context
- Population
- Athletes with sudden cardiac death (SCD) referred to a UK specialist cardiac pathology centre, investigated with molecular autopsyof 748 athletes
- Participants
- 42 athletes
- Outcome
- Diagnostic yield of molecular autopsy (clinically actionable variants)
Methodological detailssingle specialist cardiac pathology centre, consecutive cases, molecular autopsy (MA) by targeted sequencing (28) or exome sequencing (14), Variants classified by international guidelines
- Single specialist cardiac pathology centre
- Consecutive cases
- MA by targeted sequencing (28) or exome sequencing (14)
- Variants classified by international guidelines
Main finding
As reported in the abstract
Clinically actionable variants
7
17%
Genetic–phenotypic concordance in arrhythmogenic cardiomyopathy (ACM) (FLNC, TMEM43)
2
Clinically actionable cardiomyopathy-gene variants in sudden arrhythmic death syndrome (SADS)
5
Observational data: associations, not effects.
Further findings
Autopsy diagnosis
- SADS (structurally normal heart)
- 33 (78%)
- ACM
- 8 (19%)
- Idiopathic LV fibrosis
- 1 (2%)
Circumstances of death
- During exercise
- 26 (62%)
- At rest
- 16 (38%)
Original publication
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