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Hypertrophic cardiomyopathy. Pathophysiology, diagnosis, and treatment
Eric D Popjes1, Martin St John Sutton
1Department of Medicine, Division of Cardiology, Penn State Milton S. Hershey Medical Center, Hershey, Penn., USA.
Insights
Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease. Diagnosis often occurs after age 50, utilizing clinical exams, non-invasive tests, and genetic testing for atypical cases.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiovascular disease.
- HCM presents with diverse clinical features and disease progression.
- While often associated with younger individuals, HCM is frequently diagnosed in patients over 50.
Purpose of the Study:
- To review the diagnosis and management of hypertrophic cardiomyopathy.
- To highlight the importance of considering HCM in older adults.
- To outline current treatment strategies for symptomatic and obstructive HCM.
Main Methods:
- Review of clinical presentation and diagnostic approaches for HCM.
- Discussion of non-invasive testing and genetic testing utility.
- Analysis of treatment modalities for HCM, including outflow tract obstruction and sudden death risk.
Main Results:
- Most HCM cases can be diagnosed through clinical evaluation and non-invasive testing.
- Genetic testing aids in identifying HCM in individuals without classic symptoms.
- Treatment focuses on improving diastolic function and relieving obstruction.
Conclusions:
- HCM diagnosis requires a comprehensive approach, including genetic evaluation.
- Management strategies should be tailored to individual patient phenotypes.
- Risk stratification for sudden cardiac death may necessitate defibrillator implantation.
Abstract:
Hypertrophic cardiomyopathy is one of the most common inherited cardiovascular diseases and is characterized by a heterogeneous appearance and natural history. Although previously thought to be a disease of the young, HCM is frequently diagnosed in patients over age 50. A careful history and physical examination and readily available non-invasive testing will diagnose most cases, but genetic testing can identify those not expressing the typical phenotype. Treatment of symptomatic patients is targeted toward improving LV diastolic function; for patients with the obstructive form HCM, treatment involves relieving outflow tract obstruction. Identification of those at risk for sudden death may require consideration of prophylactic defibrillator placement.