Hypertrophic cardiomyopathy (HCM) is a common inherited heart condition that affects the structure of the heart muscle. It is characterized by the thickening (hypertrophy) of the heart’s walls, particularly the left ventricle.

This abnormal thickening can make it difficult for the heart to pump blood effectively, leading to various symptoms and potential complications. In this article, we will explore the causes and symptoms of hypertrophic cardiomyopathy in detail.

Causes of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy is primarily caused by genetic mutations that are passed down from parents to their children. These mutations affect the proteins responsible for the structure and contraction of heart muscle cells.

As a result, the heart muscle fibers become disorganized and the walls of the heart thicken. However, it is important to note that not all individuals with the genetic mutations will develop symptoms or complications of HCM.

While most cases of hypertrophic cardiomyopathy are inherited, spontaneous mutations can occur during embryonic development, leading to the condition as well.

In rare cases, certain genetic disorders like Fabry disease and Noonan syndrome can also increase the risk of developing HCM.

Symptoms of Hypertrophic Cardiomyopathy

The symptoms of hypertrophic cardiomyopathy can vary widely among individuals. In some cases, people may experience mild or no symptoms at all, while in others, the symptoms can be severe and debilitating. The common symptoms associated with HCM include:.

1. Shortness of Breath

Due to the thickened heart muscle, the left ventricle may have difficulty relaxing and filling with blood properly.

This can result in a decreased ability to meet the body’s oxygen demands, leading to shortness of breath with exertion or even at rest.

2. Chest Pain

Individuals with hypertrophic cardiomyopathy may experience chest pain, also known as angina. This occurs when the heart muscle does not receive an adequate blood supply, typically due to a narrowed coronary artery.

The chest pain may be triggered by physical activity or emotional stress.

3. Fatigue and Weakness

The impaired function of the heart muscle can lead to fatigue and weakness. As the heart struggles to pump blood effectively, the body may not receive sufficient oxygen and nutrients, resulting in feelings of tiredness and weakness.

4. Heart Palpitations

Many people with hypertrophic cardiomyopathy experience heart palpitations, which are irregular or pounding heartbeats. These palpitations may arise from abnormal electrical signals within the heart, resulting in an irregular heart rhythm (arrhythmia).

5. Light-headedness or Fainting

In some cases, individuals with HCM may experience episodes of lightheadedness or fainting. This may occur due to reduced blood flow to the brain, caused by the obstructed blood flow from the thickened heart muscle.

6. Heart Murmurs

Doctors may detect abnormal heart sounds, known as heart murmurs, during a physical examination of individuals with hypertrophic cardiomyopathy. These murmurs are caused by turbulent blood flow through the narrowed area of the heart.

7. High Blood Pressure

Hypertrophic cardiomyopathy can also result in high blood pressure (hypertension) in some individuals. The thickened heart muscle can make it difficult for the heart to pump blood out effectively, leading to increased pressure within the arteries.

8. Arrhythmias

HCM increases the risk of developing abnormal heart rhythms or arrhythmias. These can range from harmless palpitations to potentially life-threatening arrhythmias like ventricular fibrillation, which can cause sudden cardiac arrest.

9. Family History

A significant number of individuals diagnosed with hypertrophic cardiomyopathy have a family history of the condition. It is important to be aware of any relatives who have been diagnosed with HCM, as the condition is often inherited.

10. Sudden Cardiac Death

Although relatively rare, hypertrophic cardiomyopathy can lead to sudden cardiac death, particularly in young athletes.

This occurs when fatal arrhythmias or severe obstructions prevent the heart from effectively pumping blood, leading to a sudden loss of consciousness and eventual cardiac arrest.

Conclusion

Hypertrophic cardiomyopathy is a complex heart condition that primarily results from genetic mutations affecting the structure and contraction of heart muscle cells.

While it can be asymptomatic or cause mild symptoms in some individuals, others may experience significant impairments in their daily lives. Recognizing the potential symptoms and being aware of the condition’s genetic component can help with early detection, appropriate management, and reducing the risk of complications.