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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hypertrophic obstructive cardiomyopathy
Josef Veselka1, Nandan S Anavekar2, Philippe Charron3
1Department of Cardiology, 2nd Medical School, Charles University and Motol University Hospital, Prague, Czech Republic.
Insights
Hypertrophic obstructive cardiomyopathy (HOCM) is an inherited heart muscle disease causing thickened heart walls and outflow obstruction. Diagnosis involves clinical evaluation and imaging, with treatments like defibrillators or septal reduction therapy for severe cases.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic obstructive cardiomyopathy (HOCM) is a primary inherited myocardial disease.
- It is characterized by cardiac hypertrophy (wall thickness ≥15 mm) unrelated to abnormal loading conditions.
- Left ventricular outflow tract obstruction (LVOTO) is a key feature, defined as ≥30 mm Hg.
Purpose of the Study:
- To define the key characteristics of hypertrophic obstructive cardiomyopathy.
- To outline diagnostic approaches for HOCM.
- To summarize current management strategies for HOCM and its complications.
Main Methods:
- Diagnosis is typically suspected based on clinical presentation.
- Imaging modalities are crucial for confirmation and assessment of severity.
- Risk stratification for sudden cardiac death and other complications is essential.
Main Results:
- Common symptoms include dyspnea, chest pain, palpitations, and syncope.
- Patients face increased risks of sudden cardiac death, heart failure, and atrial fibrillation.
- Effective management strategies exist for identified risks and symptoms.
Conclusions:
- HOCM requires prompt diagnosis and risk assessment.
- Management involves targeted therapies such as cardioverter-defibrillator implantation for sudden cardiac death risk.
- Septal reduction therapy (myectomy or alcohol septal ablation) is recommended for severe LVOTO symptoms.
- Life-long anticoagulation is indicated following atrial fibrillation episodes.
Abstract:
Hypertrophic obstructive cardiomyopathy is an inherited myocardial disease defined by cardiac hypertrophy (wall thickness ≥15 mm) that is not explained by abnormal loading conditions, and left ventricular obstruction greater than or equal to 30 mm Hg. Typical symptoms include dyspnoea, chest pain, palpitations, and syncope. The diagnosis is usually suspected on clinical examination and confirmed by imaging. Some patients are at increased risk of sudden cardiac death, heart failure, and atrial fibrillation. Patients with an increased risk of sudden cardiac death undergo cardioverter-defibrillator implantation; in patients with severe symptoms related to ventricular obstruction, septal reduction therapy (myectomy or alcohol septal ablation) is recommended. Life-long anticoagulation is indicated after the first episode of atrial fibrillation.
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