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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Syncope in hypertrophic (obstructive) cardiomyopathy]
Hubert Seggewiß1, Angelika Koljaja-Batzner2, Kornelia Seggewiß
1Standort Juliusspital, Medizinische Klinik - Kardiologie & Internistische Intensivmedizin, Klinikum Würzburg-Mitte, Juliuspromenade 19, 97070, Würzburg, Deutschland. seggewiss.hubert@t-online.de.
Insights
Hypertrophic cardiomyopathy, a genetic heart condition, often causes left ventricle outflow obstruction and sudden cardiac death risk. Diagnosis involves detailed syncope history and risk stratification for interventions like ICD implantation.
Area of Science:
- Cardiology
- Genetics
- Cardiac Electrophysiology
Background:
- Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic cardiac disease.
- Dynamic left ventricular outflow tract obstruction affects approximately 70% of HCM patients.
- Younger patients with HCM face an elevated risk of sudden cardiac death.
Purpose of the Study:
- To outline diagnostic and therapeutic strategies for hypertrophic cardiomyopathy.
- To emphasize the importance of evaluating syncope etiology in HCM patients.
- To discuss risk stratification for sudden cardiac death and symptomatic management.
Main Methods:
- Detailed patient history focusing on syncope circumstances to differentiate rhythmogenic and hemodynamic causes.
- Prognostic assessment for sudden cardiac death risk, guiding decisions on implantable cardioverter-defibrillator (ICD) implantation.
- Symptomatic therapy evaluation, including medical management and interventional options.
Main Results:
- Syncope and presyncope are common symptoms in HCM, alongside dyspnea and angina.
- Distinguishing between rhythmogenic and hemodynamic causes of syncope is crucial for diagnosis.
- Risk stratification is essential for identifying patients who may benefit from ICDs.
Conclusions:
- HCM management requires a comprehensive approach, integrating diagnosis, risk assessment, and tailored therapy.
- Medical therapy with beta-blockers and/or verapamil is the first line for symptomatic treatment.
- Percutaneous septal ablation and surgical myectomy are effective complementary options for refractory symptoms in HCM.
Abstract:
Hypertrophic cardiomyopathy is the most common genetic cardiac disease. The most important pathophysiological finding is dynamic (outflow tract) obstruction of the left ventricle in about 70% of affected patients. Especially in younger patients, an increased risk of sudden cardiac death has been observed. Syncope and presyncope-in addition to extremely variable cardiac symptoms (dyspnea and angina)-are common. The etiology of syncope is complex. The most important aspect for diagnosis is a detailed history regarding the accompanying circumstances of the syncope. In principle, an attempt must be made to distinguish between rhythmogenic and hemodynamic causes. Diagnostic work-up should be performed under the criteria of a possible prognostic-with implantation of an implantable cardioverter-defibrillator (ICD) in patients at increased risk of sudden cardiac death-and symptomatic therapy. Depending on the underlying morphology and the experience of the surgeon, percutaneous septal ablation and operative myectomy are complementary options for symptomatic treatment if medical therapy with beta-blockers and/or verapamil is inadequate.
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