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Updated: May 28, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Medical, Surgical, and Interventional Management of Hypertrophic Cardiomyopathy
Daniele Massera1, Mark V Sherrid1, Joshua A Scheinerman2
1Hypertrophic Cardiomyopathy Program (D.M., M.V.S., L.R.), Department of Cardiothoracic Surgery, NYU Langone Health, New York, NY.
Insights
Hypertrophic cardiomyopathy, a common heart condition, involves thickened ventricles and can be managed with integrated medical, interventional, and surgical care to improve quality of life and reduce mortality.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent yet often overlooked cardiac disorder.
- It presents with a varied phenotype, including left ventricular hypertrophy, outflow obstruction, diastolic dysfunction, and arrhythmias.
- HCM is frequently hereditary, linked to mutations in sarcomeric genes.
Purpose of the Study:
- To provide a practical overview of key aspects of hypertrophic cardiomyopathy.
- To discuss diagnostic evaluations, imaging techniques, and methods for provoking left ventricular outflow obstruction.
- To review current and emerging treatment strategies, including medical, interventional, and surgical options.
Main Methods:
- Review of current literature and clinical guidelines on hypertrophic cardiomyopathy.
- Discussion of diagnostic approaches, including imaging and genetic testing.
- Analysis of therapeutic interventions, encompassing medical management (negative inotropic therapy, myosin inhibition) and procedural options (septal reduction, mitral valve intervention).
Main Results:
- Integrated care involving medical, interventional, and surgical approaches can significantly impact disease burden, quality of life, and mortality in HCM patients.
- Effective management strategies exist for both obstructive and nonobstructive forms of HCM.
- Various interventions, including septal reduction and mitral valve procedures, offer therapeutic options.
Conclusions:
- Hypertrophic cardiomyopathy requires a comprehensive management strategy tailored to individual patient phenotypes.
- While not curable, timely and appropriate interventions can substantially improve patient outcomes.
- Ongoing research and therapeutic advancements continue to refine the care of individuals with HCM.
Abstract:
Hypertrophic cardiomyopathy is a common but underrecognized cardiac disorder characterized by a heterogenous phenotype that includes increased left ventricular thickness, outflow obstruction, diastolic dysfunction, and arrhythmia. Hypertrophic cardiomyopathy is often heritable and associated with pathogenic variants in sarcomeric genes. While not curable, an integrated approach involving medical, interventional, and surgical care can have a considerable impact on disease burden, quality of life, and mortality. This review provides a practical overview of important topics in hypertrophic cardiomyopathy, including evaluation of differential diagnosis, imaging, provocation of left ventricular outflow obstruction, treatment of obstructive and nonobstructive hypertrophic cardiomyopathy with negative inotropic therapy and myosin inhibition, as well as surgical and interventional approaches to septal reduction and mitral valve intervention.
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