DISEASE SCANNER

Global Incurable Diseases Tracker

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Cardiac Disease

Hypertrophic Cardiomyopathy (HCM)

HIGH SEVERITY

A genetic condition characterized by abnormal thickening (hypertrophy) of the heart muscle, most commonly the interventricular septum. Can obstruct blood flow and cause arrhythmias. Leading cause of sudden cardiac death in young athletes.

Global Affected

2.0M

Countries

16

Symptoms

Dyspnea
Chest pain (angina)
Palpitations
Syncope or presyncope
Fatigue
Orthopnea
Sudden cardiac death (may be first manifestation)

Treatment Options

Beta-blockers
Calcium channel blockers (verapamil, diltiazem)
Disopyramide
Mavacamten (myosin inhibitor)
Septal myectomy (surgery)
Alcohol septal ablation
ICD implantation
Antiarrhythmic drugs

Risk Factors

1Autosomal dominant inheritance
2Sarcomere protein gene mutations (MYH7, MYBPC3)
3Family history
4Male sex (more severe expression)

Diagnostic Methods

  • 1Echocardiogram (asymmetric septal hypertrophy)
  • 2Cardiac MRI
  • 3Genetic testing
  • 4ECG (LVH, ST-T changes)
  • 5Exercise stress testing
  • 6Holter monitoring

Prognosis

Generally good with modern management; annual mortality 1-2% in adults. Higher risk in children and young adults. ICD prevents sudden death in high-risk patients. Most live normal lifespan.

Prevention

  • Genetic counseling and testing
  • Family screening
  • Avoidance of competitive sports (high-risk patients)
  • ICD for primary prevention in high-risk
  • Treatment of hypertension

Research Status

Beta-blockers, non-dihydropyridine calcium channel blockers for symptoms. ICD for high-risk patients. Septal myectomy or alcohol septal ablation for obstruction. Mavacamten (cardiac myosin inhibitor) newly approved.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilIndiaChinaNigeriaSouth AfricaMexicoAustralia

Sources

  • https://www.heart.org/en/health-topics/cardiomyopathy/what-is-cardiomyopathy-in-adults/hypertrophic-cardiomyopathy-hcm
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.