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Updated: Jun 30, 2025
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hypertrophic Cardiomyopathy
Jason N Dungu1,2, Amy Hardy-Wallace3, Anthony D Dimarco3
1Essex Cardiothoracic Centre, Nethermayne, Basildon, Essex SS16 5NL, UK. j.dungu@nhs.net.
Insights
Early diagnosis of hypertrophic cardiomyopathy (HCM) is crucial for risk stratification and intervention. This review guides clinicians on diagnosis, phenocopy differentiation, and emerging treatments like myosin inhibitors for better patient and family outcomes.
Area of Science:
- Cardiology
- Genetics
- Inherited Cardiac Conditions
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac condition linked to sudden cardiac death.
- Timely diagnosis and risk stratification are vital for effective management and preventing adverse outcomes.
- Inconsistent screening protocols can lead to missed high-risk relatives or unnecessary burden on low-risk individuals.
Purpose of the Study:
- To provide a comprehensive guide for clinicians on the diagnostic pathway for HCM.
- To discuss conditions that mimic HCM (phenocopies) and methods for differentiation.
- To review novel treatment options, including myosin inhibitors and gene editing therapies.
Main Methods:
- Review of current literature on hypertrophic cardiomyopathy diagnosis and management.
- Inclusion of a diagnostic flowchart for clinical decision-making.
- Discussion of differentiating HCM from its phenocopies.
Main Results:
- Summarizes recent advancements in clinical decision-making for HCM.
- Highlights the benefits of early identification and referral to specialist centers.
- Emphasizes the potential gains from novel therapies for genotype-positive/phenotype-negative patients.
Conclusions:
- Effective screening and early diagnosis of HCM are essential for optimal patient care and family risk assessment.
- Understanding phenocopies is critical for accurate HCM diagnosis.
- Emerging therapies offer new hope, particularly for individuals identified through genetic screening.
Purpose Of Review:
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac condition with potential for severe complications including sudden cardiac death. Early diagnosis allows appropriate risk stratification and prompt intervention to minimise the potential for adverse outcomes. The implications of poorly coordinated screening are significant, either missing relatives at high-risk or burdening low-risk individuals with a diagnosis associated with reduced life expectancy. We aim to guide clinicians through the diagnostic pathway through to novel treatment options. Several conditions mimic the condition, and we discuss the phenocopies and how to differentiate from HCM.
Recent Findings:
We summarise the latest developments informing clinical decision making in the modern era of myosin inhibitors and future gene editing therapies. Early identification will enable prompt referral to specialist centres. A diagnostic flowchart is included, to guide the general cardiology and heart failure clinician in important decision making regarding the care of the HCM patient and importantly their relatives at risk. We have highlighted the importance of screening because genotype-positive/phenotype-negative patients are likely to have the most to gain from novel therapies.
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