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Differences in Disease Trajectory, Comorbidities, and Mortality in Sarcomeric and Nonsarcomeric Hypertrophic Cardiomyopathy - PubMed

3 days ago
  • #genetics
  • #cardiovascular outcomes
  • #hypertrophic cardiomyopathy
  • Sarcomere gene variants are a key cause of hypertrophic cardiomyopathy (HCM) and are associated with worse prognosis.
  • The study compared sarcomeric HCM (with pathogenic/likely pathogenic sarcomere variants) and nonsarcomeric HCM (genetically elusive) in 6,120 patients.
  • Sarcomeric HCM patients were diagnosed younger (median 38.1 vs. 54.3 years) and had less obesity, hypertension, and left ventricular (LV) obstruction.
  • After age standardization, sarcomeric HCM had higher incidences of atrial fibrillation, LV systolic dysfunction, and ventricular arrhythmias compared to nonsarcomeric HCM.
  • All-cause mortality was similar between groups, but sarcomeric HCM patients died younger, losing an estimated 3.5 life-years between ages 44 and 85.
  • Sarcomeric HCM was associated with higher HCM-related mortality (HR 1.61).
  • Atrial fibrillation was identified as the strongest disease-modifier, increasing risks of LV systolic dysfunction, ventricular arrhythmias, and mortality in both groups.
  • Genotype-interaction analyses showed a larger impact of atrial fibrillation and LV systolic dysfunction on adverse outcomes in sarcomeric HCM.
  • Sarcomeric HCM may benefit from more vigilant surveillance for arrhythmias and systolic dysfunction, with a lower threshold for advanced therapies.
  • Comorbidities like hypertension and obesity may be modifiable risk factors for nonsarcomeric HCM patients.