Genetic disorder with LV hypertrophy not explained by loading conditions.
Causes
- • Sarcomere protein gene mutations (MYH7, MYBPC3)
Clinical features
- • Dyspnoea, chest pain, syncope, palpitations
- • Sudden cardiac death (young)
Examination
- • Ejection systolic murmur ↑ with Valsalva/standing
- • Bifid pulse
- • S4
Investigations
- • ECG (LVH, deep TWI, Q waves)
- • Echo (asymmetric septal >15 mm, SAM, LVOT gradient)
- • Cardiac MRI (fibrosis)
- • Genetic testing
Management
- • β-blocker or verapamil for symptoms
- • Disopyramide if refractory
- • Mavacamten (myosin inhibitor)
- • Septal reduction (myectomy/alcohol ablation) if drug-refractory
- • ICD if high SCD risk (HCM Risk-SCD)
Complications
- • SCD, AF, HF, stroke
Prevention
- • Screen first-degree relatives (ECG + echo, genetic)
- • Avoid competitive sports
References
- • ESC 2023 HCM Guidelines
- • AHA/ACC 2020 HCM
Related in WardRound
Educational — verify locally.
