About Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic heart disease characterized by unexplained left ventricular hypertrophy caused by over 1,000 pathogenic mutations identified in genes encoding sarcomeric proteins. The most commonly affected genes include MYH7 (encoding cardiac myosin heavy chain), MYBPC3 (encoding cardiac myosin-binding protein C), and TNNT2 (encoding cardiac troponin T). The hypertrophy is typically asymmetric with preferential involvement of the anterior ventricular septum, frequently leading to left ventricular outflow tract (LVOT) obstruction. In a study of 320 patients, about 70% had obstruction at rest or during exercise (Maron et al., Circulation, 2006).
This obstruction creates a pressure gradient during systole that limits cardiac output and causes symptoms. Diastolic dysfunction develops due to increased myocardial stiffness and impaired relaxation, further limiting ventricular filling.
Patients may experience exertional chest pain, dyspnea, syncope from arrhythmias, and palpitations. Sudden cardiac death is an increased risk, particularly in young athletes and children with marked hypertrophy or positive family history of sudden death. Atrial fibrillation becomes increasingly common with advancing disease, affecting approximately 25-50% of patients and increasing stroke risk. A small share of patients, 3.5% in a study of 1,259 people, reach an end stage in which the heart's pumping weakens (ejection fraction below 50%), often with an enlarged chamber (Harris et al., Circulation, 2006).
Common Symptoms of Familial Hypertrophic Cardiomyopathy
Recognizing the signs of Familial Hypertrophic Cardiomyopathy early can lead to faster diagnosis and better outcomes. Symptoms may vary in severity from person to person. If you or a loved one are experiencing any of the following, consider speaking with a specialist.
- Chest pain and dyspnea on exertion
- Syncope or presyncope
- Palpitations and arrhythmias
- Fatigue and exercise intolerance
- Orthopnea in advanced disease
- Sudden cardiac death risk
Who Familial Hypertrophic Cardiomyopathy Affects
Familial hypertrophic cardiomyopathy has variable age of onset from childhood through late adulthood, with earlier-onset disease generally being more symptomatic and progressive.
The condition is more symptomatic and progressive in those with childhood onset. It affects males and females equally. Autosomal dominant inheritance means approximately 50% of first-degree relatives (children, siblings, parents) of affected individuals inherit the mutation. Approximately 5% of cases result from de novo mutations in individuals with unaffected parents.
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FDA-Approved Treatments for Familial Hypertrophic Cardiomyopathy
There are currently 4 FDA-approved medications for Familial Hypertrophic Cardiomyopathy. These therapies represent the current standard of care and may be used alongside or compared against investigational treatments in active clinical trials.
Source: openFDA drug labeling data. This list may not include all treatments. Always consult your doctor.
Help Paying for Familial Hypertrophic Cardiomyopathy Treatment
Charity funds and drugmaker programs for Familial Hypertrophic Cardiomyopathy, checked at the source.
- From a charity · HealthWell FoundationCardiomyopathy (Medicare Access) fundOpen
Pays for: Copays, premiums or other treatment costs. Medicare patients only.
- From a charity · TotalAssist (formerly PAN Foundation)Hypertrophic Cardiomyopathy fundOpen
Pays for: Out-of-pocket costs for approved medications, up to $7,200 per year. Requires health insurance (any kind).
- From a charity · Hypertrophic Cardiomyopathy AssociationHCMA Lori Fund fundApply directly
Pays for: Transportation, meals and lodging to reach an HCMA Center of Excellence, up to $600 per year.
The foundation says: “Status not shown on page”
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Genetic Testing
Genetic testing can confirm a diagnosis, guide treatment decisions, and identify family members who may be at risk.
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Trusted Familial Hypertrophic Cardiomyopathy Resources
Reputable organizations and medical references for learning more about Familial Hypertrophic Cardiomyopathy, including disease registries, foundation resources, and clinical guidelines.