Heart failure & cardiomyopathies
Genotype-Negative Patients With Familial Hypertrophic Cardiomyopathy: Traveling to the "Middle Earth"
Authors' conclusion
Sarc-/FH+ represented 15% of our HCM cohort and exhibited intermediate clinical features between Sarc-/FH- and Sarc+, suggesting an interplay of monogenic/oligogenic disease with environmental factors. This population provides a unique opportunity for gene discovery and an understanding of nongenetic modifiers of HCM, deserving of dedicated investigation.
Study context
- Population
- Hypertrophic cardiomyopathy (HCM) patients who underwent comprehensive clinical assessment and genetic testingHCM patients, followed for a median of 6 years
- Participants
- 654 participants
- Exposure
- The 3 groups (Sarc-/FH-, Sarc-/FH+, Sarc+) were compared for major arrhythmic events, heart failure, all-cause death, atrial fibrillation, and stroke
- Sarc-/FH-n = 182
- Sarc-/FH+n = 101
- Sarc+n = 371
- Outcome
- Group distribution
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
Stroke · median of 6 years
- Stroke: P = 0.046
Phenotype: Sarc-/FH+ similar to Sarc+ (younger, higher HCM risk sudden cardiac death, lower prevalence of obstruction) compared to Sarc-/FH-
- Age
- 43 [IQR: 23-53] years vs 39 [IQR: 23-52] years; P = 0.235
- Obstructive
- 19% obstructive vs 18%; P = 0.763
Phenotype: Sarc-/FH+ akin to Sarc-/FH- (lower prevalence of female sex, higher burden of cardiovascular risk factors, less prevalent late gadolinium enhancement at cardiac magnetic resonance imaging) compared to Sarc+
- Female prevalence
- 26% vs 27%; P = 0.829
- Late gadolinium enhancement
- 50% vs 53%; P = 0.541
Outcomes (major arrhythmic events, heart failure, all-cause death, atrial fibrillation) · median of 6 years
- There were no significant outcome differences
Original publication
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