Arrhythmias & electrophysiology
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders
Authors' conclusion
A large proportion of subjects with PMF at autopsy had variants in genes associated with arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, and hypertrophic cardiomyopathy without autopsy findings of those diseases, suggesting that PMF can be an alternative phenotypic expression of structural disease-associated genetic variants or that risk-associated fibrosis was expressing before the primary disease.
Study context
- Population
- Individuals with sudden cardiac death in Northern Finland with primary myocardial fibrosis (PMF) as the only structural finding at autopsy96 with DNA passing QC
- Participants
- 145 individuals
- Outcome
- Pathogenic/likely pathogenic variants or variants of uncertain significance in genes associated with myocardial structure and ion channel function
Methodological detailsautopsy series, postmortem targeted next-generation sequencing (174-gene panel), Tissue obtained at autopsy from 4031 consecutive individuals with sudden cardiac death
- Autopsy series
- Postmortem targeted next-generation sequencing (174-gene panel)
- Tissue obtained at autopsy from 4031 consecutive individuals with sudden cardiac death
Main finding
As reported in the abstract
Variants on postmortem genetic testing in PMF
- Variants of known or uncertain significance
- 24 variants in 26 subjects (27%)
- Pathogenic/likely pathogenic variants
- 10 in 10 subjects (10%)
- Variants of uncertain significance
- 14 in 11 genes among 16 subjects (17%)
- Variants in arrhythmogenic RV cardiomyopathy-associated genes
- 5
- Variants in hypertrophic cardiomyopathy-associated genes
- 6
- Variants in dilated cardiomyopathy-associated genes
- 11
- Variants not associated with these disorders
- 2
- Unique variants of uncertain significance cosegregating among multiple unrelated subjects
- 4
Observational data: associations, not effects.
Original publication
Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders. Circulation. Published 19 June 2018. doi:10.
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