Alan D Enriquez1, Martin E Goldman2. 1. Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: adenriquez@partners.org. 2. Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, NY.
Abstract
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is clinically defined as unexplained myocardial hypertrophy, and it is an autosomal dominant disease of the cardiac sarcomere. It is present in 1 in 500 in the general adult population, making it the most common genetic cardiovascular disease. The pathophysiology of HCM is complex, leading to significant variability in clinical presentation. This, combined with the lack of randomized trials, makes the management of these patients difficult. FINDINGS: The majority of patients with HCM are asymptomatic without a substantial reduction in survival. However, a considerable portion of patients will experience significant symptoms and HCM-related death, and effective therapies are available for these patients. Patients may have symptoms of heart failure from outflow tract obstruction and/or restrictive physiology. Medical therapy targeted at the underlying pathophysiology should be used, and surgical myectomy or alcohol septal ablation is available for those with refractory symptoms. While the overall risk of sudden cardiac death (SCD) is low in HCM patients, some are at elevated risk for and experience SCD, a devastating outcome in young patients. Risk stratification for SCD and treatment with implantable cardioverter-defibrillators is paramount. Many HCM patients will also develop atrial fibrillation, and this is often poorly tolerated. A rhythm control strategy with antiarrhythmic drugs or catheter ablation is often necessary, and anticoagulation should be administered to reduce the risk of thromboembolism. Finally, family members of patients with HCM should be regularly screened with electrocardiography and echocardiography. CONCLUSIONS: HCM is a complex disease with heterogeneous phenotypes and clinical manifestations. The management of HCM focuses on reducing symptoms of heart failure, preventing SCD, treating atrial fibrillation, and screening family members. Treatment should be tailored to the unique characteristics of each individual patient.
BACKGROUND:Hypertrophic cardiomyopathy (HCM) is clinically defined as unexplained myocardial hypertrophy, and it is an autosomal dominant disease of the cardiac sarcomere. It is present in 1 in 500 in the general adult population, making it the most common genetic cardiovascular disease. The pathophysiology of HCM is complex, leading to significant variability in clinical presentation. This, combined with the lack of randomized trials, makes the management of these patients difficult. FINDINGS: The majority of patients with HCM are asymptomatic without a substantial reduction in survival. However, a considerable portion of patients will experience significant symptoms and HCM-related death, and effective therapies are available for these patients. Patients may have symptoms of heart failure from outflow tract obstruction and/or restrictive physiology. Medical therapy targeted at the underlying pathophysiology should be used, and surgical myectomy or alcohol septal ablation is available for those with refractory symptoms. While the overall risk of sudden cardiac death (SCD) is low in HCM patients, some are at elevated risk for and experience SCD, a devastating outcome in young patients. Risk stratification for SCD and treatment with implantable cardioverter-defibrillators is paramount. Many HCM patients will also develop atrial fibrillation, and this is often poorly tolerated. A rhythm control strategy with antiarrhythmic drugs or catheter ablation is often necessary, and anticoagulation should be administered to reduce the risk of thromboembolism. Finally, family members of patients with HCM should be regularly screened with electrocardiography and echocardiography. CONCLUSIONS: HCM is a complex disease with heterogeneous phenotypes and clinical manifestations. The management of HCM focuses on reducing symptoms of heart failure, preventing SCD, treating atrial fibrillation, and screening family members. Treatment should be tailored to the unique characteristics of each individual patient.
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