Hypertrophic Cardiomyopathy (HCM)
HCM is a genetic disease characterized by left ventricular hypertrophy without an obvious cause. It can cause left ventricular outflow tract (LVOT) obstruction, diastolic dysfunction, arrhythmias, and sudden cardiac death (SCD). Early diagnosis allows tailored therapy, family screening, and lifestyle adjustments.
Causes & Genetics
- Autosomal dominant mutations in sarcomeric proteins (MYH7, MYBPC3, TNNT2, TNNI3)
- Phenocopies: Fabry disease, amyloidosis, Pompe disease must be excluded
- Family screening with ECG/echo for first-degree relatives
Symptoms
- Dyspnea, chest pain, palpitations, syncope/presyncope
- Fatigue, exercise intolerance
- Sudden cardiac arrest (especially during exertion)
- Some individuals remain asymptomatic
Diagnosis
- Echocardiogram showing LV wall thickness ≥15 mm (≥13 mm in relatives)
- LVOT gradient measurement (resting or with Valsalva/exercise)
- Cardiac MRI for fibrosis (late gadolinium enhancement)
- ECG abnormalities (LVH, repolarization changes)
- Genetic testing/counseling
- Exercise stress test, ambulatory monitoring for arrhythmias
Management
Lifestyle & Monitoring
- Avoid dehydration, extreme exertion, and competitive sports if high risk
- Encourage moderate aerobic activity under guidance
- Screen for comorbidities (sleep apnea, hypertension)
- Regular follow-up with HCM center or cardiologist
Medications
- Beta-blockers first-line for symptoms
- Non-dihydropyridine calcium channel blockers (verapamil, diltiazem)
- Disopyramide for obstructive symptoms in combination
- New myosin inhibitors (mavacamten, aficamten in trials) reduce LVOT gradient
Septal Reduction Therapy
- Surgical septal myectomy (gold standard) for severe obstruction
- Alcohol septal ablation for select patients unsuitable for surgery
Arrhythmia/SCD Prevention
- Implantable cardioverter-defibrillator (ICD) for patients with major risk factors (family history of SCD, syncope, thick wall ≥30 mm, nonsustained VT, abnormal blood pressure response, extensive fibrosis)
- Manage atrial fibrillation aggressively (anticoagulation)
Advanced Heart Failure
- Heart transplant for end-stage HCM with refractory symptoms
Living with HCM
- Track symptoms, blood pressure, medications, arrhythmia episodes, ICD shocks
- Communicate emergency plan and ICD status to family/EMT
- Mental health support—fear of SCD is common
- Family planning: preimplantation genetic testing discussed with genetic counselor
Complications
- Sudden cardiac death
- Atrial fibrillation, stroke
- Progressive heart failure, restrictive physiology
- Mitral regurgitation due to SAM (systolic anterior motion)
Research & Future Directions
Myosin modulators, gene therapies, and cell-based approaches aim to modify disease course earlier. Wearables and AI improve arrhythmia detection and SCD risk stratification.
Experimental & Emerging Treatments
- Aficamten and other next-gen myosin inhibitors with rapid titration.
- Gene Editing/Replacement: Targeting sarcomeric mutations to prevent hypertrophy.
- RNA Interference: Silencing mutant allele expression while preserving wild-type function.
- Digital Biomarkers: Continuous hemodynamic monitoring to adjust meds proactively.
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Medical Disclaimer: Informational only. Work with an HCM specialist for diagnostic confirmation, family screening, and personalized treatment including medications, myectomy, or ICD decisions.
Sources: American College of Cardiology/American Heart Association, European Society of Cardiology, Hypertrophic Cardiomyopathy Association