Related Experiment Video
Updated: Jan 1, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
The Hypertrophic Cardiomyopathy Phenotype Viewed Through the Prism of Multimodality Imaging: Clinical and Etiologic
Ethan J Rowin1, Barry J Maron1, Martin S Maron1
1Hypertrophic Cardiomyopathy Center and Research Institute, Tufts Medical Center, Boston, Massachusetts.
Insights
Advanced imaging techniques like echocardiography and cardiovascular magnetic resonance (CMR) are crucial for diagnosing hypertrophic cardiomyopathy (HCM). These methods help identify high-risk features and guide treatment decisions, leading to reduced mortality rates.
Area of Science:
- Cardiology
- Medical Imaging
Background:
- Hypertrophic cardiomyopathy (HCM) is a complex cardiac condition requiring precise characterization.
- Noninvasive imaging plays a vital role in assessing HCM's structural and functional abnormalities.
Purpose of the Study:
- To highlight the comprehensive role of contemporary noninvasive imaging in evaluating hypertrophic cardiomyopathy.
- To demonstrate how imaging guides risk stratification and therapeutic interventions in HCM patients.
Main Methods:
- Utilized echocardiography and cardiovascular magnetic resonance (CMR) for detailed cardiac assessment.
- Incorporated late gadolinium enhancement (LGE) for myocardial fibrosis detection.
- Employed exercise (stress) echocardiography to assess outflow gradients.
Main Results:
- Imaging precisely defines left ventricle (LV) wall thickness and identifies mitral valve and LV chamber abnormalities.
- Late gadolinium enhancement (LGE) effectively characterizes myocardial fibrosis.
- Novel high-risk indicators for sudden death, including LV apical aneurysm and extensive LGE, were identified.
- Stress echocardiography differentiated obstructive from nonobstructive HCM.
- Multimodality imaging facilitated selection for septal reduction therapy and surgical planning.
Conclusions:
- Contemporary imaging provides a comprehensive assessment of HCM, aiding in risk stratification.
- Imaging guides optimal patient selection for invasive therapies like myectomy and alcohol septal ablation.
- Integrated imaging strategies contribute to a low HCM-related mortality rate.
Abstract:
Noninvasive contemporary imaging with echocardiography and cardiovascular magnetic resonance (CMR) provide comprehensive characterization of the hypertrophic cardiomyopathy (HCM) heart including precise definition of left ventricle (LV) wall thickness and reliable identification of morphologic abnormalities of the mitral valve, LV chamber, and myocardial tissue characterization with late gadolinium enhancement (LGE) (fibrosis). Imaging also contributes to identification of patients at risk for sudden death including novel high-risk features such as LV apical aneurysm and extensive LGE. Exercise (stress) echocardiography should be considered to demonstrate physiologic provocation of LV outflow gradients and to distinguish from patients with nonobstructive HCM. Multimodality imaging identifies patients who are optimal candidates for invasive septal reduction therapy and directs preoperative planning for extended myectomy and to optimize alcohol septal ablation. Contemporary imaging interwoven with current management strategies have resulted in a low HCM-related mortality rate.
Related Concept Videos
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Mitral Stenosis II: Clinical features and Diagnostic Tests
Cardiomyopathy I: Introduction and Classification
Cardiomyopathy II: Dilated Cardiomyopathy
Cardiomyopathy V: Interprofessional Care
Cardiomyopathy IV: Restrictive Cardiomyopathy

