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Updated: Jan 31, 2026
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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Obstructive hypertrophic cardiomyopathy: pathophysiology and diagnosis
Miguel Marques Antunes1,2,3, José Miguel Viegas1, Vera Vaz Ferreira1
1Serviço de Cardiologia, Hospital de Santa Marta, Centro Clínico Académico de Lisboa (CCAL), Lisbon, Portugal.
Indian Journal of Thoracic and Cardiovascular Surgery
|January 30, 2026
Summary
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition causing left ventricular (LV) hypertrophy and outflow tract obstruction. Comprehensive evaluation using advanced imaging is crucial for personalized treatment strategies.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by left ventricular (LV) hypertrophy.
- Obstructive HCM involves structural abnormalities like septal hypertrophy and mitral valve issues.
- Pathophysiology includes hypercontractility, myocyte disarray, fibrosis, and coronary microvascular dysfunction.
Purpose of the Study:
- To review the complex interplay of genetic, structural, and functional elements in obstructive HCM.
- To emphasize the importance of comprehensive evaluation for effective therapeutic decisions.
Main Methods:
- Diagnosis integrates clinical presentation, physical examination, ECG, genetic testing, and advanced imaging.
- Transthoracic echocardiography is the primary tool for assessing hypertrophy, LVOT gradients, and valve function.
- Cardiac MRI complements echocardiography for anatomical detail, LV mass quantification, and fibrosis detection.
Main Results:
- HCM diagnosis relies on integrating multiple clinical and imaging modalities.
- Echocardiography and cardiac MRI are essential for detailed assessment of HCM.
- Advanced imaging aids in identifying specific patterns and fibrosis, guiding treatment.
Conclusions:
- Understanding the multifaceted nature of obstructive HCM is key.
- Comprehensive diagnostic evaluation is essential for tailoring patient management.
- Individualized therapeutic strategies improve outcomes in obstructive HCM.
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