Arrhythmias & electrophysiology
Genetic variants associated with cardiac hypertrophy-related sudden cardiac death and cardiovascular outcomes in a Finnish population
Authors' conclusion
We identified rare deleterious variants associated with LVH in SCD subjects. Several of the identified rare variants associated with cardiovascular endpoints including heart failure, cardiomyopathies, cardiac arrest and hypertension in general population.
Study context
- Population
- Non-ischaemic sudden cardiac death (SCD) subjects with presumably hypertension-related left ventricular hypertrophy (LVH) and myocardial fibrosis at autopsy
- Participants
- 96 subjects
- Outcome
- Rare deleterious gene variants (minor allele frequency<0.005)
Methodological detailswhole exome sequencing, replication in FinnGen
- Whole exome sequencing
- Replication in FinnGen
Main finding
As reported in the abstract
Variants estimated likely to affect protein function
18
Of these, associated with cardiomyopathies, HF, conduction abnormalities, hypertension and/or cardiac arrest in FinnGen
14
Classified as pathogenic or likely pathogenic (splice site variant in regulatory factor X5; frameshift variants in dehydrogenase/reductase 7C and villin like)
3
Original publication
Genetic variants associated with cardiac hypertrophy-related sudden cardiac death and cardiovascular outcomes in a Finnish population. Heart. Published 3 October 2024. doi:10.
Summarised from the published abstract; every number is checked against it