Heart failure & cardiomyopathiesCohort study
The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy
- Retrospective cohort study
- multicentre registry
- haplotype analysis
Authors' conclusion
The p.Asn271Ile variant in the TNNT2 gene is associated with late onset HCM, with a low risk of adverse events.
Study context
- Population
- Probands and relatives carrying TNNT2 variants associated with hypertrophic cardiomyopathy (HCM), families mainly from A Coruña (Spain)
- Participants
- 159 vs 76
- Exposure
- TNNT2 p.Asn271Ile carriers vs codon 92 variant carriers
- p.Asn271Ilen = 159
- Codon 92n = 76reference
- Outcome
- Composite of:
- Malignant ventricular arrhythmia
- End-stage HF
Main finding
As reported in the abstract
Codon 92
34.3%
P < 0.001
- p.Asn271Ile carriers reaching the primary endpoint
- 4.2%
- p.Asn271Ile carriers: malignant ventricular arrhythmia
- 3.2%
- p.Asn271Ile carriers: end-stage HF
- 1.1%
Observational data: associations, not effects.
Further findings
Age at diagnosis (p.Asn271Ile)
years
- Estimated median diagnosis age, p.Asn271Ile (late-onset HCM, incomplete age-related penetrance)
- 60.1
- Men diagnosed before women
- 18.4 (P < 0.001)
- Codon 92 carriers diagnosed earlier, with higher penetrance
- 19.4
LV thickness (p.Asn271Ile)
- Median LV thickness, p.Asn271Ile (predominantly mild phenotype)
- 17 mm
Original publication
The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy. JACC Heart Fail. Published 30 April 2025. doi:10.1016/j.jchf.2025.01.024
Summarised from the published abstract; every number is checked against it