Perspectives on the Overall Risks of Living With Hypertrophic Cardiomyopathy

Abstract

ypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, unique in many respects among cardiovascular conditions, including its extreme clinical heterogeneity.Through the years, HCM has acquired the unfortunate reputation as an unrelenting disease with a highly unfavorable and generally grim prognosis, and largely without effective treatment strategies or acceptable expectation for longevity and quality of life. 1 Many patients with HCM, based on evaluation in general cardiology practices, have come to mistakenly believe that their diagnosis is among the least favorable that could confront them. Recent Outcome DataThis highly negative perception, created in part by early reports of cohorts impacted by patient referral bias, persists despite recent major advances in diagnosis and treatment, including advanced imaging, contemporary risk stratification, and implantable cardioverter-defibrillators for sudden death prevention 2 ; surgical septal myectomy, alcohol ablation, and heart transplant to reverse progressive heart failure; prophylactic anticoagulation to prevent embolic stroke; and defibrillation and targeted temperature management for out-of-hospital cardiac arrest.[1][2][3] Current estimates of the natural history of HCM indicate a significant reduction in disease-related mortality to 0.5%/year, no different than in the general population, and similar at any age of presentation, including in children and young adults who often demonstrate the most aggre…