- •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×.
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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- Clinical course and management of hypertrophic cardiomyopathy.N. Engl. J. Med. 2018; 379: 1977
- Diagnosis and evaluation of hypertrophic cardiomyopathy: JACC state-of-the-art review.J. Am. Coll. Cardiol. 2022; 79: 372-389
- Global burden of hypertrophic cardiomyopathy.JACC Heart Fail. 2018; 6: 376-378
- Personalized treatment strategies effective in hypertrophic cardiomyopathy do not rely on genomics in 2022: a different tale of precision medicine.Am. J. Cardiol. 2022; 183: 150-152
- Prevalence of hypertrophic cardiomyopathy in a population of adult Japanese workers as detected by echocardiographic screening.Am. J. Cardiol. 1987; 59: 183-184
- Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults.Circulation. 1995; 92: 785-789
- Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities.J. Am. Coll. Cardiol. 1999; 33: 1590-1595
- Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the strong heart study).Am. J. Cardiol. 2004; 93: 1510-1514
- Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults.Am. J. Med. 2004; 116: 14-18
- Clinical and echocardiographic study of hypertrophic cardiomyopathy in Tanzania.Trop. Dr. 2006; 36: 225-227
- Prevalence of hypertrophic cardiomyopathy in a large sample of the Spanish working population.Rev. Clin. Esp (Barc). 2021; 221: 315-322
- Prevalence of unexplained left ventricular hypertrophy by cardiac magnetic resonance imaging in MESA.J. Am. Heart Assoc. 2019; 8e012250
- Prevalence of hypertrophic cardiomyopathy in the UK biobank population.JAMA Cardiol. 2021; 6: 852-854
- Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy.J. Am. Coll. Cardiol. 2021; 78: 1097-1110
- Occurrence of clinically diagnosed hypertrophic cardiomyopathy in the United States.Am. J. Cardiol. 2016; 117: 1651-1654
- Misclassification of hypertrophic cardiomyopathy: validation of diagnostic codes.Clin. Epidemiol. 2017; 9: 403-410
- Prevalence of clinically apparent hypertrophic cardiomyopathy in Germany-an analysis of over 5 million patients.PLoS One. 2018; 13e0196612
- Identifying unmet clinical need in hypertrophic cardiomyopathy using national electronic health records.PLoS One. 2018; 13e0191214
- Trends of the prevalence and incidence of hypertrophic cardiomyopathy in Korea: a nationwide population-based cohort study.PLoS One. 2020; 15e0227012
- Clinical diagnosis of hypertrophic cardiomyopathy over time in the United States (a population-based claims analysis).Am. J. Cardiol. 2021; 159: 107-112
- Prevalence, incidence and mortality of hypertrophic cardiomyopathy based on a population cohort of 21.9 million in China.Sci. Rep. 2022; 12: 18799
- Burden of rare sarcomere gene variants in the Framingham and Jackson heart study cohorts.Am. J. Hum. Genet. 2012; 91: 513-519
- Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Sci. Transl. Med. 2016; 8: 364ra151
- New perspectives on the prevalence of hypertrophic cardiomyopathy.J. Am. Coll. Cardiol. 2015; 65: 1249-1254
- Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers.J. Am. Coll. Cardiol. 2020; 76: 550-559
- Diversity of patterns of hypertrophy in patients with systemic hypertension and marked left ventricular wall thickening.Am. J. Cardiol. 1990; 65: 874-881
- Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial.Lancet. 2020; 396: 759-769
Published online: April 05, 2023
Accepted: April 3, 2023
Received in revised form: March 1, 2023
Received: December 14, 2022
© 2023 Elsevier B.V. All rights reserved.