Hypertrophic Cardiomyopathy

What is Hypertrophic Cardiomyopathy?

Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life

How does Hypertrophic Cardiomyopathy affect families?

Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide and is the most common genetic heart disease in the United States.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms. In most cases, an affected person has one parent with the condition.

Mutations in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes, including some that have not been identified, may also be involved in this condition. The proteins produced from the genes associated with familial hypertrophic cardiomyopathy play important roles in contraction of the heart muscle by forming muscle cell structures called sarcomeres. Sarcomeres, which are the basic units of muscle contraction, are made up of thick and thin protein filaments

What are the symptoms?

The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. People with familial hypertrophic cardiomyopathy may experience:

• chest pain
• shortness of breath
• a sensation of fluttering or pounding in the chest (palpitations)
• lightheadedness
• dizziness
• fainting

While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.

What is the treatment for Hypertrophic Cardiomyopathy?

Lifestyle changes:

• Quitting smoking
• Losing excess weight
• Avoiding alcohol and illegal drugs
• Getting enough sleep and rest
• Reducing stress

Surgery for Cardiomyopathy:

• Septal Myectomy
• Surgically Implanted Devices
• Cardiac resynchronization therapy (CRT) device
• Heart Transplant
• Alcohol septal ablation

Resources

Genetics Home Reference - www.ghr.nlm.nih.gov

The American Heart Association - www.heart.org

The Hypertrophic Cardiomyopathy Association - www.4hcm.org