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Published on: August 8, 2022
Hypertrophic Cardiomyopathy: Clinical Update
Jeffrey B Geske1, Steve R Ommen1, Bernard J Gersh1
1Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
Insights
Hypertrophic cardiomyopathy (HCM) is a common genetic heart condition. This clinical update covers diagnosis, risk stratification, and management for HCM patients.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is the most common inherited heart muscle disease.
- It is characterized by left ventricular hypertrophy without secondary causes.
- Genetic mutations in sarcomeric proteins are primary drivers, though often unidentified.
Purpose of the Study:
- To provide a clinical update on hypertrophic cardiomyopathy.
- To cover diagnosis, family screening, imaging, risk stratification, and symptom management.
- To address the challenges in managing this diverse condition.
Main Methods:
- Review of current clinical practices and literature.
- Focus on diagnostic criteria and imaging techniques.
- Emphasis on risk stratification and therapeutic strategies.
Main Results:
- HCM presents with diverse phenotypes, from asymptomatic to severe heart failure or sudden cardiac death.
- Most patients develop dynamic left ventricular outflow obstruction.
- Risk stratification for sudden cardiac death remains a significant clinical challenge.
Conclusions:
- Effective management of HCM involves addressing dynamic obstruction through various interventions.
- Early diagnosis and family screening are crucial for heritable conditions.
- This update aims to guide clinicians in optimizing patient care for HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM.
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