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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Hypertrophic cardiomyopathy and sudden cardiac death
Konstantinos I Stroumpoulis1, Ioannis N Pantazopoulos, Theodoros T Xanthos
1Konstantinos I Stroumpoulis, Department of Experimental Surgery and Surgical Research, Medical School, University of Athens, 11527, Athens, Greece.
Insights
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition affecting the left ventricle. Early detection and interventions for HCM, especially in athletes, can prevent sudden cardiac death.
Area of Science:
- Cardiology
- Genetics
- Sports Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiovascular disease impacting the left ventricle.
- While many patients remain asymptomatic, HCM can manifest with symptoms like dyspnea, dizziness, syncope, and angina.
- HCM is a significant cause of sudden cardiac death (SCD), particularly in young athletes.
Purpose of the Study:
- To review the clinical presentation and management of hypertrophic cardiomyopathy.
- To highlight the role of left ventricular outflow tract obstruction and its treatment.
- To emphasize the importance of preparticipation screening programs for athletes to prevent HCM-related SCD.
Main Methods:
- Literature review of hypertrophic cardiomyopathy.
- Analysis of clinical manifestations, including symptoms and complications like SCD.
- Evaluation of treatment strategies, including implantable cardioverter-defibrillators and surgical interventions for outflow tract obstruction.
Main Results:
- HCM affects the left ventricle and can lead to serious symptoms and sudden cardiac death.
- Left ventricular outflow tract obstruction is a common feature in symptomatic HCM patients, and its correction improves outcomes.
- Implantable cardioverter-defibrillators are beneficial for high-risk patients.
- Preparticipation screening is crucial for identifying at-risk athletes to prevent fatalities.
Conclusions:
- Hypertrophic cardiomyopathy requires comprehensive management strategies, including risk stratification and targeted interventions.
- Addressing left ventricular outflow tract obstruction and utilizing defibrillators can improve survival in HCM patients.
- Implementing standardized preparticipation screening programs is essential to mitigate the risk of sudden cardiac death in young athletes due to HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease that affects the left ventricle. HCM can appear at any age, with the majority of the patients remaining clinically stable. When patients complain of symptoms, these include: dyspnea, dizziness, syncope and angina. HCM can lead to sudden cardiac death (SCD), mainly due to ventricular tachyarrhythmia or ventricular tachycardia. High-risk patients benefit from implantable cardioverter-defibrillators. Left ventricular outflow tract obstruction is not a rare feature in HCM, especially in symptomatic patients, and procedures that abolish that obstruction provide positive and consistent results that can improve long-term survival. HCM is the most common cause of sudden death in young competitive athletes and preparticipation screening programs have to be implemented to avoid these tragic fatalities. The structure of these programs is a matter of large debate. Worldwide registries are necessary to identify the full extent of HCM-related SCD.
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