Overview
Hypertrophic cardiomyopathy (HCM) is a genetic disease in which the heart muscle becomes thickened (hypertrophied). This thickened heart muscle can make it harder for the heart to pump blood efficiently. HCM often goes undiagnosed because many people with the disease have few, if any, symptoms. However, in a small number of people with HCM, the thickened heart muscle can cause shortness of breath, chest pain, or changes in the heart's electrical system, resulting in life-threatening irregular heart rhythms (arrhythmias) or sudden death. The condition is usually inherited and can lead to complications like atrial fibrillation, rapid or irregular heartbeat, and difficulty breathing. There is no known prevention for HCM, and it's important to identify the condition as early as possible to guide treatment and prevent complications.
Understanding the disease
Symptoms
The symptoms of hypertrophic cardiomyopathy may include one or more of the following: chest pain, especially during exercise; fainting, especially during or just after exercise or exertion; heart murmur; sensation of fast, fluttering or pounding heartbeats (palpitations).
Risk Factors
The risk factors for developing hypertrophic cardiomyopathy include:
- Inherited genetic mutation: HCM is usually inherited from one or both parents, with a 50% chance of having the genetic mutation if one parent has the condition.
- Family history: Having a first-degree relative (parent, sibling, or child) with HCM increases the risk of developing the condition. Note: There is no known prevention for hypertrophic cardiomyopathy. It's important to identify the condition as early as possible to guide treatment and prevent complications. If you have a first-degree relative with HCM, you might be referred for genetic testing to screen for the condition.
Development
Hypertrophic cardiomyopathy (HCM) develops due to changes in genes (gene mutations) that cause the heart muscle to thicken. This thickening can occur in the muscular wall between the two bottom chambers of the heart (ventricles), which is called obstructive hypertrophic cardiomyopathy. When the thickened wall blocks blood flow out of the heart, it can cause difficulty breathing, chest pain, and rapid or irregular heartbeats. In cases where there's no significant blocking of blood flow, the condition is called nonobstructive hypertrophic cardiomyopathy. The heart's main pumping chamber (left ventricle) might stiffen, making it hard for the heart to relax and reducing the amount of blood it can pump with each heartbeat. HCM can also cause a rearrangement of heart muscle cells (myofiber disarray), which can trigger arrhythmias in some people. Additionally, the thickened heart muscle can lead to atrial fibrillation, a fast or irregular heartbeat that can increase the risk of developing blood clots and cause a stroke.
Assessment and Diagnosis
Triage
If you suspect hypertrophic cardiomyopathy (HCM), you should see a doctor as soon as possible. The American Heart Association recommends that individuals with symptoms or those who have a first-degree relative (parent, sibling, or child) with HCM should be evaluated by a healthcare provider. Early diagnosis and management of HCM are crucial to prevent complications and manage symptoms. A healthcare provider will perform a physical exam, review your medical history, and consider your family history. They might also recommend diagnostic tests such as an echocardiogram or genetic testing to confirm the diagnosis. If you experience symptoms like chest pain, shortness of breath, or palpitations, or if you have a family member with HCM, it is important to seek medical attention promptly.
Diagnosis
To diagnose hypertrophic cardiomyopathy, a healthcare provider will typically perform a physical examination, ask questions about your symptoms, medical history, and family history, and order several tests. These tests may include an echocardiogram, electrocardiogram (ECG or EKG), cardiac MRI, and stress test. The goals of treatment are to relieve symptoms and prevent sudden cardiac death in high-risk individuals. Lifestyle modifications, medications, and in some cases, surgery may be recommended to manage hypertrophic cardiomyopathy. The specific treatment plan will depend on the severity of symptoms and the individual's overall health.
Management and Treatment
Complications
Potential complications of hypertrophic cardiomyopathy can include atrial fibrillation, heart failure, fainting, and sudden cardiac death. Atrial fibrillation is a condition where the heart's electrical system is affected, leading to fast or irregular heartbeats. This can also increase the risk of developing blood clots, which can travel to the brain and cause a stroke. Heart failure occurs when the thickened heart muscle becomes too stiff to fill with blood properly, resulting in reduced blood pumping capacity. Fainting can be caused by irregular heartbeats or blockage of blood flow, and is related to an increased risk of sudden cardiac death. Sudden cardiac death can occur in people with hypertrophic cardiomyopathy, especially in young, seemingly healthy individuals.
Home Remedies
There is no specific home remedy for hypertrophic cardiomyopathy (HCM) as it is a genetic disorder that requires medical management and monitoring. HCM often involves thickening of the heart muscle, which can interfere with the heart's ability to pump blood effectively. It is important to consult with a healthcare professional for proper diagnosis, treatment, and management of HCM. In general, leading a healthy lifestyle can help manage symptoms and improve overall heart health. This may include regular exercise, maintaining a healthy weight, eating a balanced diet low in saturated fat and high in fruits, vegetables, and whole grains, limiting alcohol consumption, and avoiding smoking. However, it is crucial to consult with a healthcare provider before starting any new exercise or dietary regimen, especially if you have HCM. It is essential to follow the treatment plan recommended by your healthcare provider, which may include medications, regular monitoring, and lifestyle modifications. If you suspect you have symptoms of HCM, consult with a healthcare professional for proper evaluation and guidance.
Treatment
Treatment for hypertrophic cardiomyopathy (HCM) aims to relieve symptoms and prevent sudden cardiac death in high-risk individuals. The following treatments may be recommended:
- Medications: Beta blockers, calcium channel blockers, and heart rhythm drugs can help reduce the strength of the heart muscle's contraction, slow the heart rate, and improve blood flow.
- Surgical options: Septal myectomy, a procedure to remove part of the thickened septum, might be recommended if medications don't improve symptoms.
- Lifestyle changes: Maintaining a healthy diet, exercising regularly, maintaining a healthy weight, and limiting alcohol consumption can support overall heart health. Treatment plans are tailored to the individual's specific symptoms and risk factors. Regular follow-up appointments with a healthcare provider are essential to monitor the condition and adjust treatments accordingly. You should always consult a healthcare professional for personalized advice and recommendations.
Preparing for medical consultation
To prepare for an appointment for hypertrophic cardiomyopathy, you should:
- Make a list of your symptoms and when they began.
- List all medications, vitamins, and supplements you take, including doses.
- Note any key medical information, including other diagnosed conditions and family history of heart disease.
- Ask about pre-appointment restrictions, such as changes to your activity level or diet.
- Be prepared to discuss the severity of your symptoms and how they have changed over time.
- Inform your doctor if exercise or physical exertion makes your symptoms worse.
- Find out if any relatives have been diagnosed with hypertrophic cardiomyopathy or have had unexplained, sudden death.
- If you need to avoid strenuous exercise, plan your activities accordingly.
- Be open with your healthcare provider about any alcohol use, and follow their recommendations on alcohol consumption.
- Remember to attend regular follow-up appointments and inform your provider about any new or worsening symptoms. Preparing for the appointment will help ensure that you receive the most appropriate care and treatment for your condition.