Hypertrophic cardiomyopathy (HCM) is a relatively common condition affecting the heart muscle that can present at any age. It is usually detected by echocardiogram or electrocardiogram. Symptoms range from mild shortness of breath on exertion to sudden cardiac death, often in young athletes. Early identification of HCM provides the best opportunity to implement clinical and lifestyle management strategies, potentially reducing mortality. Hypertrophic cardiomyopathy is typically inherited in an autosomal dominant manner, and a growing number of genes are known to be associated with the condition. In addition, there are genetic syndromes of which HCM might be a feature (eg, Noonan syndrome, Fabry disease). At-risk testing is available in most provinces.
Bottom line
Hypertrophic cardiomyopathy is a serious heart condition for which genetic testing is available when indicated. Any individual with clinical features or a family history of HCM should be referred for cardiac assessment and genetics counseling.
The complete Gene Messenger—Hypertrophic Cardiomyopathy by the GenetiKit research team is available on CFPlus.* Past Gene Messenger articles can be accessed on-line at www.cfp.ca. On the home page, click on Collections in the lefthand menu, then click on Genetics.
Acknowledgment
Funding was provided by the Canadian Institutes of Health Research.
Footnotes
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↵* The Gene Messenger on hypertrophic cardiomyopathy is available at www.cfp.ca. Go to the full text of this article on-line, then click on CFPlus in the menu at the top right-hand side of the page.
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Competing interests
None declared
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The GenetiKit research team, a group of family physicians, genetic counselors and geneticists, designed the Gene Messenger series to provide practical information to help family physicians and their patients make informed choices about rapidly emerging genetic discoveries. The series is a collection of up-to-date, definitive, short reviews on genetics topics that have made headlines, and offers recommendations regarding referral for genetic services or testing.
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