Hypertrophic Cardiomyopathy
Cardiovascular · ~11% of blueprint- Pathophysiology
- Autosomal-dominant sarcomere mutation → asymmetric septal hypertrophy → LV outflow obstruction (HOCM) + diastolic dysfunction.
- Signs & Symptoms
- Dyspnea, angina, syncope; harsh systolic murmur that ↑ with ↓preload (Valsalva, standing). May present as sudden cardiac death in a young athlete.
- Gold Standard Diagnosis
- Echocardiography (septal hypertrophy, systolic anterior motion of mitral valve, outflow gradient). ECG: LVH, deep septal Q waves.
- First-line Treatment
- Beta-blocker (or non-DHP CCB); avoid dehydration, pure vasodilators, high-dose diuretics. If refractory: disopyramide/mavacamten, then myectomy/ablation; ICD if high SCD risk.
High-Yield Pearl
Murmur ↑ with Valsalva/standing (↓preload) — opposite of most murmurs. Leading cause of sudden death in young athletes; screen first-degree relatives.
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Sources
Reviewed September 2026- 2024 AHA/ACC Guideline for the Management of Hypertrophic Cardiomyopathy — AHA/ACC, 2024
- StatPearls: Hypertrophic Cardiomyopathy — NCBI Bookshelf / StatPearls, 2025
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