Hypertrophic Cardiomyopathy (HCM) Therapeutics: Symptoms, Causes and Risk Factors of HCM


Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle (myocardium) becomes abnormally thick (hypertrophied).

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The thickened heart muscle can make it harder for the heart to pump blood. HCM is the most common genetic cardiovascular disease. It is estimated to affect 1 in 500 people.

Causes and Risk Factors of HCM

HCM is caused by genetic mutations that affect the proteins in heart muscle cells. Over 1,500 genetic variations have been linked to HCM. These mutations alter the structure and function of contractile proteins in cardiac myocytes. The most common genetic cause is mutations in the β-myosin heavy chain (MYH7) gene.

Hypertrophic Cardiomyopathy (HCM) Therapeutics  as an autosomal dominant pattern of inheritance, meaning only one copy of the mutated gene is sufficient to cause the condition. Thus, each child of an affected individual has a 50% chance of inheriting the mutation. Other risk factors include family history of HCM or sudden cardiac death.

Symptoms of HCM

Many people with HCM have no symptoms at all or only mild symptoms. When present, symptoms can include:

- Chest pain or discomfort (angina)
- Fatigue or weakness
- Shortness of breath during exercise or other physical activity
- Dizziness or fainting during exercise or other physical activity
- Palpitations (irregular or rapid heartbeats)
- Heart murmur
- Sweating

Later stages of HCM can lead to heart failure where the heart cannot pump enough blood to meet the body's needs.

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