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Hypertrophic cardiomyopathy
What's new
Updated 2024 AHA/ACC guidelines for the diagnosis and management of hypertrophic cardiomyopathy .
Background
Overview
Definition
HCM is a genetic disorder characterized by LVH and a non-dilated left ventricle with preserved or increased ejection fraction.
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Pathophysiology
HCM is most frequently caused by genetic mutations in genes (β-myosin heavy chain [MYH7] and myosin binding protein C [MYBPC3]) encoding sarcomere proteins. LVH leads to diastolic dysfunction, reduced systolic output volume, decreased peripheral and myocardial perfusion, cardiac arrhythmia and/or HF and finally increased risk of SCD.
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Epidemiology
The prevalence of HCM in the US is low, with an estimated 200 cases per 100,000 population. HCM incidence is bimodal (peak incidence in the second decade and third decade of life).
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Disease course
Clinical manifestations include symptoms due to increased LV end-diastolic pressure (exertional dyspnea, exercise intolerance, orthopnea, peripheral edema, and HFpEF), LV outflow obstruction (exertional or immediately post-exertional syncope, ventricular arrhythmia), chest pain, palpitations, VT. Disease progression may lead to AF, hypertension, valvular disease, HF, and SCD.
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Prognosis and risk of recurrence
HCM is associated with an annual mortality rate of 0.5%, and mortality is higher in children. However, SCD is often the first clinical manifestation.
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Guidelines
Key sources
The following summarized guidelines for the evaluation and management of hypertrophic cardiomyopathy are prepared by our editorial team based on guidelines from the American Medical Society for Sports Medicine (AMSSM/SCMR/AHA/HRS/ACC/PACES 2024), the Heart Rhythm Society (HRS 2024), the Society of Cardiovascular Computed Tomography (SCCT/SVM/SCMR/SCA/AHA/ASNC/HRS/ACC/ACS 2024), the European Society of Cardiology (ESC 2023,2022,2018,2014), and the American Heart Association (AHA/HRS/ACC 2019,2018).
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