How common is hypertrophic cardiomyopathy… really?: Disease prevalence revisited 27 years after CARDIA

• Published in: International journal of cardiology 2023-07, Vol.382, p.64-67
• Main Authors: Massera, Daniele, Sherrid, Mark V., Maron, Martin S., Rowin, Ethan J., Maron, Barry J.
• Format: Article
• Language: English
• Subjects: Cardiomyopathy, Hypertrophic - diagnostic imaging; Cardiomyopathy, Hypertrophic - epidemiology; Epidemiology; Fibrosis; Humans; Hypertrophic cardiomyopathy; Hypertrophy, Left Ventricular - diagnosis; Magnetic Resonance Imaging; Prevalence
• ISSN: 0167-5273; 1874-1754
• DOI: 10.1016/j.ijcard.2023.04.005

Hypertrophic cardiomyopathy (HCM) is a heterogeneous albeit treatable cardiac disease of variable severity, with the potential for heart failure, atrial fibrillation and arrhythmic sudden death, characterized by otherwise unexplained left ventricular (LV) hypertrophy and affecting all ages and races. Over the last 30 years, several studies have estimated the prevalence of HCM in the general population, employing echocardiography and cardiac magnetic resonance imaging (CMR), as well electronic health records and billing databases for clinical diagnosis. The estimated prevalence in the general population based on the disease phenotype of LV hypertrophy by imaging is 1:500 (0.2%). This prevalence was initially proposed in 1995 in the population-based CARDIA study employing echocardiography, and more recently confirmed by automated CMR analysis in the large UK Biobank cohort. The 1:500 prevalence appears most relevant to clinical assessment and management of HCM. These available data suggest that HCM is not a rare condition but likely underdiagnosed clinically and by extrapolation potentially affects about 700,000 Americans and possibly 15 million people worldwide. Central Illustration. Spectrum of reported population prevalence estimates for HCM. The predominant and most clinically relevant (1:500) is based on the disease phenotype and documented by both echocardiography and CMR. EHR = electronic health records; MRI = magnetic resonance imaging. [Display omitted] •The estimated prevalence of HCM based on the disease phenotype by imaging is 1:500.•HCM prevalence is relevant to clinical practice, funding and public awareness.•HCM is not rare but clinically underdiagnosed by a factor of almost 3×.