Long-Term Outcomes in Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Troponin T Gene
Key result
In patients with TNNT2 mutations, the rate of cardiovascular death, transplant, and ICD discharge was 1.6% (0.016 person/y; 95% CI 0.83-2.79%), similar to large referral populations.
Population
92 individuals (20 probands and 72 relatives) carrying TNNT2 mutations (51 [55%] male; mean age 30±17 years)
Design
Cohort
Follow-up
mean, 9.9±5.2 years
Authors
Discussion
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Implication
May not indicate higher risk in TNNT2 HCM despite family history; extends referral data but leaves genotype-specific stratification open.
Key Points
- To evaluate the long-term clinical expression, phenotypic manifestations, and cardiovascular outcomes in individuals with hypertrophic cardiomyopathy caused by cardiac troponin T (TNNT2) mutations.
- Screened 552 unrelated hypertrophic cardiomyopathy probands for TNNT2 mutations and evaluated first-degree relatives with genetic and clinical testing.
- Analyzed baseline electrocardiograms (n=87) and echocardiograms (n=88) in 92 identified TNNT2 mutation carriers (20 probands, 72 relatives; mean age 30±17 years; 55% male).
- Monitored 75 mutation carriers over a mean follow-up duration of 9.9±5.2 years to assess disease progression and major cardiovascular events.
- Normal baseline echocardiograms were present in 90% (18/20) of children (<16 years) and 24% (16/68) of adults, whereas normal electrocardiograms occurred in 68% (13/19) of children and 19% (13/68) of adults.
- During follow-up, 4 individuals (2 children, 2 adults) with normal baseline echocardiograms developed left ventricular hypertrophy, and 23 received an implantable cardioverter-defibrillator.
- The annualized rate of sudden cardiac death was 0.93% (0.0093 person/y; 95% CI, 0.37–1.92%), and the composite rate of cardiovascular death, transplantation, and appropriate ICD discharge was 1.6% (0.016 person/y; 95% CI, 0.83–2.79%).
Study Design
Type
Cohort (n=92)
Structured PICO
P
Population
92 individuals (20 probands and 72 relatives) carrying TNNT2 mutations (51 [55%] male; mean age 30±17 years)
O
Outcome
Rate of cardiovascular death, transplant, and implantable cardioverter-defibrillator discharge, and sudden cardiac death (SCD)hard clinical
In patients with TNNT2 mutations causing hypertrophic cardiomyopathy, the rate of cardiovascular death during follow-up was similar to large referral populations, despite adverse family histories.
Cite This Study
Pasquale et al. (2011) conducted a cohort in Hypertrophic cardiomyopathy (n=92). TNNT2 mutations was evaluated on Cardiovascular death, transplant, and implantable cardioverter-defibrillator discharge (95% CI 0.83-2.79%). In patients with TNNT2 mutations, the rate of cardiovascular death, transplant, and ICD discharge was 1.6% (0.016 person/y; 95% CI 0.83-2.79%), similar to large referral populations.