EP News: Basic and Translational

Abstract

Girolami et al (J Am Coll Cardiol 2010;55:1444, PMID 20359594) described the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort. A total of 488 unrelated index HCM patients underwent screening for myofilament gene mutations. Of the index patients, 4 (0.8%) harbored triple mutations. One had a history of resuscitated cardiac arrest, and 3 had significant risk factors for sudden cardiac death, prompting the insertion of an implantable cardioverter-defibrillator in all, with appropriate shocks in 2 patients. Three of 4 patients had a severe phenotype with progression to end-stage HCM by the fourth decade, requiring cardiac transplantation (n = 1) or biventricular pacing (n = 2). The fourth patient had clinically mild disease. The authors conclude that HCM caused by triple sarcomere gene mutations was rare but conferred a remarkably increased risk for end-stage progression and ventricular arrhythmias. Comprehensive genetic testing might provide important insights to risk stratification.