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Published on: August 8, 2022
Genetic counseling and testing for hypertrophic cardiomyopathy: an adult perspective
Cécile Skrzynia1, Erin M Demo, Samantha M Baxter
1Department of Medicine and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. rcnp@med.unc.edu
Insights
Hypertrophic cardiomyopathy (HCM) is a genetic condition requiring a team approach. Cardiologists and genetic counselors collaborate to offer comprehensive patient care and advance personalized medicine.
Area of Science:
- Cardiology
- Genetics
- Personalized Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is recognized as a primarily genetic cardiovascular disease.
- Effective management necessitates a multidisciplinary approach integrating various medical specialties.
Observation:
- Patient vignettes highlight the essential, complementary roles of cardiologists and genetic counselors.
- The collaboration between these specialists ensures comprehensive evaluation and treatment strategies.
Findings:
- Advancements in genetic testing are continually identifying more genetic causes of HCM.
- Translational research is expanding the understanding and application of genetic insights into HCM.
Implications:
- Establishing strong interdisciplinary collaboration is crucial for the future of HCM care.
- This partnership prepares healthcare providers for the era of personalized medicine in managing genetic cardiomyopathies.
Abstract:
Hypertrophic cardiomyopathy (HCM) is considered to be a genetic disease. As such, multidisciplinary approach is needed to evaluate and treat this condition. We present several patient vignettes to illustrate the complementary skills of cardiologists and genetic counselors in providing comprehensive care. Translational application of research will continue to expand as more genetic causes of HCM will be recognized and more genetic tests will become available. Now is the opportunity to build a strong collaboration between the two disciplines to be prepared for the era of personalized medicine.
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