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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Looking for hypertrophic cardiomyopathy in the community: why is it important?
Stefano Nistri1, Iacopo Olivotto, Francesca Girolami
1CMSR Veneto Medica, Via Vicenza 204, 36077, Altavilla Vicentina (VI), Italy. snistr@tin.it
Insights
Hypertrophic cardiomyopathy (HCM) is a common heart condition often mistaken as rare. Early diagnosis of HCM is crucial for timely treatment and family screening, improving patient outcomes.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent global condition.
- HCM is often misperceived as rare due to variable symptoms, incomplete penetrance, and asymptomatic disease duration.
- Many patients with HCM do not seek medical evaluation due to a lack of symptoms.
Purpose of the Study:
- To highlight the epidemiological relevance of hypertrophic cardiomyopathy (HCM).
- To emphasize the importance of early diagnosis and management of HCM.
- To advocate for increased physician awareness and improved access to specialized care for HCM.
Main Methods:
- Review of existing evidence on HCM prevalence and characteristics.
- Analysis of factors contributing to the underdiagnosis of HCM.
- Discussion of the benefits of early detection and genetic screening in HCM families.
Main Results:
- HCM is more widespread than commonly believed.
- Early diagnosis facilitates appropriate work-up and therapeutic interventions for HCM.
- Identifying HCM in one individual can lead to the diagnosis of affected family members.
Conclusions:
- Increased physician awareness and improved access to tertiary centers are vital for better HCM management.
- Enhanced knowledge of HCM's spectrum and state-of-the-art treatments can improve patient care.
- Promoting genetic evaluation in HCM families is essential for comprehensive disease management and prevention.
Abstract:
Hypertrophic cardiomyopathy (HCM) is an epidemiologically relevant, worldwide spread condition which is frequently perceived as a rare disease. This misconception might be supported by some characteristics of HCM such as its incomplete penetrance and variable age at onset and by the fact that many patients remain asymptomatic for a long course of the disease and are thus unlikely to seek for medical evaluation. Multiple evidences suggest that early diagnosis of HCM is important, not only because it allows the patients to be addressed to appropriate diagnostic work-out and to adequate therapeutical options but because it may trigger the screening of family members with the potential of further, new diagnosis of HCM in previously unsuspected individuals. Increased awareness of the disease among physicians working in community-based hospitals and in outpatients facilities, and a facilitated communication and access to tertiary referral centers, will result into a wider knowledge of the spectrum of the disease, a better access to the state-of-the-art management options for patients, and to a more diffuse practice of genetic evaluation of HCM families.
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