Disease Directory Hypertrophic Cardiomyopathy
Cardiovascular

Hypertrophic Cardiomyopathy

Also known as: HCM, HOCM, hypertrophic obstructive cardiomyopathy, MYBPC3/MYH7

Prevalence

1 per 500

Onset

Any age; often detected in adolescence or young adulthood

Type

Autosomal dominant

Gene

MYBPC3, MYH7, TNNT2

About Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy is the most common inherited heart muscle disease, characterised by unexplained left ventricular hypertrophy, myocardial fibre disarray, and increased risk of sudden cardiac death, particularly in young athletes. Mutations in genes encoding sarcomeric proteins, most frequently MYBPC3 and MYH7, are identified in approximately 60% of familial cases. Clinical presentation is highly variable, ranging from lifelong asymptomatic hypertrophy to severe heart failure and ventricular arrhythmia, with the outflow tract obstruction variant (HOCM) being amenable to cardiac myosin inhibitor therapy.

Common Clinical Features

Exertional dyspnoea and reduced exercise tolerance Chest pain (angina) on exertion Palpitations and awareness of irregular heartbeat Pre-syncope or syncope, particularly with exertion Left ventricular wall thickness greater than 15mm on echocardiography Dynamic left ventricular outflow tract obstruction Mitral regurgitation due to systolic anterior motion Increased risk of sudden cardiac death in high-risk individuals

Clinical Trial Eligibility Tips

What to know before applying to Hypertrophic Cardiomyopathy trials.

Genotype status (sarcomere-positive vs. genotype-negative HCM) affects eligibility for some precision trials; ensure comprehensive sarcomere gene panel testing has been performed.

Resting and provoked left ventricular outflow tract gradient measurements are central eligibility criteria for cardiac myosin inhibitor trials; bring current echocardiography reports.

History of septal reduction procedures (surgical myectomy or alcohol septal ablation) may exclude participation in some trials; disclose all prior interventions.

Patient Resources

Patient Organization

Hypertrophic Cardiomyopathy Association

Visit website ↗

Natural History Registry

SHaRe Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:217569)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Hypertrophic Cardiomyopathy trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Hypertrophic Cardiomyopathy. Updated daily.

Related Rare Diseases