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How common is hypertrophic cardiomyopathy… really?: Disease prevalence revisited 27 years after CARDIA
Daniele Massera1, Mark V Sherrid1, Martin S Maron2
1Hypertrophic Cardiomyopathy Program, Leon H. Charney Division of Cardiology, NYU Langone Health, New York, NY, United States of America.
Insights
Hypertrophic cardiomyopathy (HCM) affects 1 in 500 people, is a treatable heart condition, and is likely underdiagnosed. This cardiac disease can lead to serious complications if not identified and managed.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Hypertrophic cardiomyopathy (HCM) is a complex cardiac disease characterized by left ventricular hypertrophy.
- It affects all ages and races, with potential for heart failure, atrial fibrillation, and sudden death.
Purpose of the Study:
- To estimate the prevalence of hypertrophic cardiomyopathy in the general population.
- To assess the clinical relevance of current prevalence estimates for diagnosis and management.
Main Methods:
- Systematic review of studies estimating HCM prevalence.
- Analysis of echocardiography, cardiac magnetic resonance imaging (CMR), and electronic health records.
- Inclusion of data from population-based studies like CARDIA and UK Biobank.
Main Results:
- The estimated prevalence of HCM based on left ventricular hypertrophy is 1:500 (0.2%) in the general population.
- This prevalence has been consistently reported across multiple studies and imaging modalities.
- HCM is not a rare condition, potentially affecting millions worldwide.
Conclusions:
- The 1:500 prevalence is clinically relevant for assessing and managing HCM.
- HCM is likely underdiagnosed, highlighting the need for increased clinical awareness and diagnostic efforts.
- Current data suggest a significant global burden of HCM, impacting approximately 15 million individuals worldwide.
Abstract:
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.
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