Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a type of heart disease characterized by abnormal thickening of the heart muscle (myocardium), especially in the left ventricle, which is the main pumping chamber of the heart. This thickening can cause the heart to work harder to pump blood, leading to various symptoms and potential complications.

 

Types

Hypertrophic cardiomyopathy can be classified based on the distribution of the heart muscle thickening:

  • Asymmetric septal hypertrophy: This is the most common type of HCM, where the septum, the wall between the left and right ventricles, becomes abnormally thickened.
  • Concentric hypertrophy: In this type, the thickening of the heart muscle is more uniform throughout the left ventricle.
  • Apical hypertrophy: This type is characterized by the thickening of the heart muscle in the apex (tip) of the left ventricle.

 

Causes

Hypertrophic cardiomyopathy is primarily a genetic disorder caused by mutations in genes that control the proteins responsible for the heart’s contraction and relaxation. These mutations lead to the abnormal growth and arrangement of heart muscle cells, resulting in hypertrophy. HCM is usually inherited in an autosomal dominant pattern, meaning that a child has a 50% chance of inheriting the mutation if one of their parents carries the abnormal gene.

 

Symptoms

The symptoms of hypertrophic cardiomyopathy can vary from mild to severe and may include:

  • Shortness of breath, especially during physical activity or lying flat
  • Chest pain or discomfort
  • Heart palpitations or rapid heartbeat
  • Fatigue or weakness, particularly during exercise
  • Dizziness or lightheadedness
  • Fainting or near-fainting episodes (syncope)

Some individuals with HCM may remain asymptomatic, while others may experience severe symptoms and complications.

 

Risk Factors

The following factors may increase the risk of developing hypertrophic cardiomyopathy or its complications:

  • Family history of HCM or sudden cardiac death
  • Presence of specific genetic mutations associated with HCM
  • Age (HCM can be present at birth but may not manifest until later in life)
  • High blood pressure (hypertension)
  • Strenuous exercise or intense physical activity

 

Diagnosis

The diagnosis of hypertrophic cardiomyopathy involves a comprehensive evaluation, including:

  • Medical history and physical examination: The physician will inquire about symptoms, family history, and perform a thorough physical examination.
  • Electrocardiogram (ECG or EKG): This test records the electrical activity of the heart and may show characteristic changes in individuals with HCM.
  • Echocardiography: This ultrasound test provides detailed images of the heart, allowing visualization of the heart muscle thickness and function.
  • Cardiac MRI: This imaging test can provide more detailed information about the heart’s structure and function, particularly in cases where echocardiography is inconclusive.

 

Treatment

The treatment of hypertrophic cardiomyopathy aims to manage symptoms, reduce complications, and improve the overall quality of life. Treatment options may include:

  • Medications: Beta-blockers, calcium channel blockers, or other heart medications may be prescribed to control symptoms, such as chest pain, palpitations, or arrhythmias.
  • Septal myectomy: In severe cases with significant obstruction to blood flow, surgical intervention may be necessary to remove part of the thickened septum, improving blood flow out of the heart.
  • Alcohol septal ablation: This minimally invasive procedure involves injecting alcohol into a specific artery to selectively reduce the thickened heart muscle and improve blood flow.
  • Implantable cardioverter-defibrillator (ICD): In individuals at high risk of life-threatening arrhythmias or sudden cardiac death, an ICD may be implanted to monitor and correct abnormal heart rhythms.
  • Lifestyle modifications: Individuals with HCM are often advised to avoid strenuous physical activity and competitive sports.

 

When to Consult a Physician

If you or someone you know experiences symptoms such as shortness of breath, chest pain, fainting, or heart palpitations, it is essential to consult a physician for evaluation. Additionally, if there is a family history of hypertrophic cardiomyopathy or sudden cardiac death, it is crucial to seek medical attention and consider genetic testing and screening for the condition. Early diagnosis and appropriate management are essential to prevent complications and improve long-term outcomes in individuals with HCM.