Related Experiment Video
Updated: Feb 4, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Risk Stratification in Hypertrophic Cardiomyopathy
Alexandros Klavdios Steriotis1, Sanjay Sharma1
1CRY Centre for Inherited Cardiovascular Conditions & Sports Cardiology, St George's University of London, London, UK.
Insights
Hypertrophic cardiomyopathy (HCM) management focuses on identifying patients at risk of sudden cardiac death (SCD). While implantable cardioverter-defibrillators (ICDs) prevent SCD, refining risk stratification is crucial for optimal patient selection.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Hypertrophic cardiomyopathy (HCM) is an inherited heart muscle disease characterized by left ventricular hypertrophy.
- It is primarily caused by mutations in genes encoding sarcomeric proteins.
- The main concern is the risk of fatal ventricular arrhythmias and sudden cardiac death (SCD).
Purpose of the Study:
- To review the current strategies for identifying patients at risk of SCD in HCM.
- To discuss the role and challenges of implantable cardioverter-defibrillator (ICD) therapy for primary and secondary prevention of SCD.
- To highlight the need for improved risk stratification models in HCM.
Main Methods:
- Review of existing literature on HCM, SCD risk factors, and ICD therapy.
- Analysis of the limitations of current risk stratification methods.
- Discussion of emerging risk models and their validation needs.
Main Results:
- Aborted SCD and malignant ventricular arrhythmias are strong indicators for ICD implantation (secondary prevention).
- Primary prevention of SCD with ICDs is challenging due to the heterogeneous nature of HCM and variable risk factors.
- A new European Society of Cardiology risk model shows potential but requires further validation.
Conclusions:
- ICD therapy is effective in preventing SCD in HCM patients with a history of aborted SCD or malignant arrhythmias.
- Accurate risk stratification is essential to select appropriate candidates for primary prevention ICD implantation, balancing benefits against potential complications.
- Continued research is needed to refine risk prediction models for HCM patients to optimize ICD use.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a hereditary primary myocardial disease that is most commonly due to mutations within genes encoding sarcomeric contractile proteins and is characterised by left ventricular hypertrophy in the absence of a cardiac or systemic cause. Although the overall prognosis is relatively good with an annual mortality rate <1 %, the propensity to potentially fatal ventricular arrhythmias is the most feared complication. The identification of patients at risk of arrhythmogenic sudden cardiac death (SCD) is an essential component in disease management. Aborted SCD and malignant ventricular arrhythmias are the most powerful risk factors for SCD and ICD implantation is recommended in such circumstances. The selection of patients who may benefit from ICD therapy for primary prevention purposes is more challenging. The heterogeneous nature of the disease and the variation in trigger factors provides an adequate explanation for the low predictive accuracy of most conventional risk factors in isolation. A new risk model for risk stratification proposed by the European Society of Cardiology HCM outcome group shows promise but requires validation in different cohorts. The ICD is the only effective therapy in preventing SCD for the disease with a relatively low adverse event rate, but most deaths occur in relatively young patients. However, it is also difficult to ignore the complications with the ICD, therefore, the strive to perfect risk stratification in HCM should continue to ensure that only the most high-risk patients receive an ICD.
Related Concept Videos
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
01:30Cardiomyopathy II: Dilated Cardiomyopathy
01:29Cardiomyopathy IV: Restrictive Cardiomyopathy
01:29Cardiomyopathy V: Interprofessional Care
01:25Cardiomyopathy I: Introduction and Classification
01:29Cardiomyopathy VI: Nursing Management