Highlights
- •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×.
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.
Graphical abstract
Graphical Abstract
Keywords
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Article info
Publication history
Published online: April 05, 2023
Accepted:
April 3,
2023
Received in revised form:
March 1,
2023
Received:
December 14,
2022
Identification
Copyright
© 2023 Elsevier B.V. All rights reserved.
