Dominic Stone
Thickened heart muscle, or hypertrophic cardiomyopathy (HCM), is a condition that affects the heart's ability to pump blood and oxygen to the rest of the body. HCM is caused by a thickening of the heart muscle, or myocardium, which can be due to various factors such as high blood pressure, genetic conditions, or other underlying health issues. This thickening can lead to a variety of symptoms, including chest pain, palpitations, shortness of breath, and swelling in the lower body. In some cases, HCM may cause severe complications such as atrial fibrillation, blood clots, stroke, and even sudden death. Treatment options for HCM include medications, alcohol septal ablation, and open-heart surgery, with the goal of improving blood flow and relieving symptoms.
| Characteristics | Values |
|---|---|
| Causes | Hypertrophic cardiomyopathy (HCM), high blood pressure, mutated genes, and other genetic and non-genetic conditions |
| Symptoms | Chest pain, palpitations, shortness of breath, swelling in lower body or neck veins, irregular heart rate, abnormal heart rhythms, chest pain during exercise |
| Treatment | Alcohol septal ablation, septal myectomy (open-heart surgery), valve repair or replacement, cardiac procedures, medication |
| Complications | Atrial fibrillation, blood clots, stroke, sudden collapse or death, heart transplant |
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What You'll Learn
Hypertrophic cardiomyopathy (HCM)
HCM is often inherited and is a common form of genetic heart disease. It is estimated that 1 in 500 adults in the United States have HCM, but a large percentage of patients are undiagnosed. HCM can occur at any age, but most diagnoses occur in middle age. A detailed family history is crucial for risk stratification for affected patients. A comprehensive patient history, thorough physical exam, and diagnostic tests can help identify patients at risk of malignant arrhythmia. Diagnosis is typically done by echocardiogram, which checks the function and thickness of the heart muscle and how the blood flows through the heart.
There are two types of HCM: obstructive and nonobstructive. In obstructive HCM, the thickened part of the heart muscle, usually the wall (septum) between the two bottom chambers (ventricles), blocks or reduces the blood flow from the left ventricle to the aorta. Two-thirds of people with HCM have this type. In nonobstructive HCM, the heart muscle is thickened but does not block blood flow out of the heart. Some people with this type of HCM do not experience symptoms, while others may only feel symptoms with exercise or exertion.
Treatments for HCM include medication, alcohol septal ablation, and septal myectomy. Mavacamten is the only disease-specific medication currently available and is used to treat the obstructive form of HCM in symptomatic patients. Alcohol septal ablation is a nonsurgical procedure where ethanol is injected through a tube into the small artery that supplies blood to the area of thickened heart muscle. The alcohol causes these cells to die, and the thickened tissue shrinks to a more normal size. Septal myectomy, or open-heart surgery, is considered for patients with obstructive HCM who continue to experience severe symptoms despite taking medication. During this procedure, a surgeon removes part of the thickened septum that is bulging into the left ventricle, restoring blood flow within the heart and out to the body.
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High blood pressure
HCM is a disease characterised by the thickening of the heart muscle, most commonly in the left ventricle, which is responsible for pumping oxygen-rich blood to the body. This thickening can restrict the ventricle's ability to relax and fill with blood, resulting in a reduced volume of oxygen-rich blood being pumped to the organs and muscles. The stiffness in the left ventricle can also increase pressure within the heart, leading to symptoms such as chest pain, shortness of breath, dizziness, and palpitations.
The thickening of the heart muscle in HCM can be caused by various factors, including high blood pressure. This prolonged high blood pressure increases pressure on the heart, contributing to the thickening of the heart muscle. Other factors, such as genetic conditions, can also lead to HCM, and an accurate diagnosis should consider these potential causes.
The treatment of HCM aims to manage symptoms and prevent complications. Medications such as beta-blockers and calcium channel blockers are often prescribed to relax the heart muscle, improving its ability to fill and pump blood effectively. In severe cases of obstructive HCM, where the thickened muscle blocks blood flow, septal myectomy or alcohol septal ablation may be considered to restore normal blood flow. Maintaining a heart-healthy lifestyle, including staying active, eating healthily, maintaining a healthy weight, getting good quality sleep, and avoiding smoking, is crucial for individuals with HCM.
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Genetic factors
Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes the heart muscle to thicken, making it harder for the heart to pump blood effectively. It is the most common form of genetic heart disease in the United States, affecting an estimated 1 in 200 people worldwide, and can be inherited from parents. Even if an individual has an abnormal gene, they may not develop HCM, and researchers are still working to understand the other factors that increase the likelihood of the disease.
HCM is autosomal dominant, meaning that a person only needs one copy of the altered gene in each cell to have the disorder. The most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. The proteins produced from these genes play a crucial role in tensing (contraction) of the heart muscle by forming muscle cell structures called sarcomeres. Sarcomeres are the basic units of muscle contraction, made up of thick and thin protein filaments that attach to and release from each other, allowing the muscle to contract.
The MYH7 gene, for example, produces the protein cardiac beta (β)-myosin heavy chain, which is the major component of the thick filament in sarcomeres. The MYBPC3 gene, on the other hand, produces the protein cardiac myosin binding protein C, which associates with the thick filament, providing structural support and helping to regulate muscle contractions. The TNNT2 and TNNI3 genes provide instructions for making two of the three proteins that make up the troponin protein complex found in cardiac muscle cells. This complex controls muscle contraction and relaxation by regulating the interaction of the thick and thin filaments.
Familial hypertrophic cardiomyopathy occurs when multiple members of a family have the condition. When the condition occurs in people with no family history, it is considered nonfamilial hypertrophic cardiomyopathy. In familial cases, the cardiac thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left and right chambers of the heart. This thickening can impede the flow of oxygen-rich blood from the heart, leading to abnormal heart sounds during a heartbeat (heart murmur) and other symptoms.
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Mitral valve issues
Mitral valve stenosis can be caused by a variety of factors, including congenital defects, radiation therapy for cancer, bacterial infections, and calcification of the valve. The condition can lead to a range of symptoms, including shortness of breath, chest pain, fatigue, irregular heart rhythms, swollen feet or legs, coughing up blood, and fluid build-up in the lungs.
One of the most common forms of mitral valve disease is mitral valve prolapse (MVP), where the mitral valve leaflets stretch and loosen, preventing the valve from closing properly. Over time, MVP can worsen and lead to mitral regurgitation, also known as mitral valve insufficiency, where the leaflets or cusps of the mitral valve do not close properly, allowing blood to flow backwards.
Treatment options for mitral valve disease include medications, lifestyle changes, and surgical or interventional therapies such as mitral valve repair or replacement, including robotic heart surgery and transcatheter mitral valve repair procedures. The choice of treatment depends on the severity of the condition and the patient's medical history.
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Treatment options
Hypertrophic cardiomyopathy (HCM) is a condition that causes the heart muscle to thicken and can interfere with the heart's ability to pump blood to the rest of the body. While some people with HCM may not experience any symptoms, others may feel symptoms during physical activity, such as exercising. HCM can lead to serious health problems and even sudden death, especially in athletes, so it is important to seek medical attention if any symptoms are present.
There is currently no cure for HCM, but treatment options are available to relieve symptoms and prevent complications. Here are some of the treatment options for HCM:
- Medications: Healthcare providers often prescribe medications such as beta-blockers and calcium channel blockers to relax the heart muscle, improve its filling, and enhance its pumping function. Other medications can help control heart rate and reduce the occurrence of arrhythmias. Antibiotics may also be necessary to reduce the risk of bacterial endocarditis, a life-threatening condition. Mavacamten (MyoKardia) is another medication that may help reduce symptoms and improve physical functioning in people with symptomatic cardiomyopathy.
- Septal Myectomy: Septal myectomy, or septal reduction therapy, is open-heart surgery considered for people with obstructive HCM who continue to have severe symptoms despite taking medications. During this procedure, the surgeon removes a small portion of the thickened septal wall to widen the path for blood flow from the left ventricle to the aorta.
- Alcohol Septal Ablation: Also known as nonsurgical septal reduction therapy, alcohol septal ablation is a procedure where ethanol (a type of alcohol) is injected through a catheter into the small artery supplying blood to the thickened heart muscle. The alcohol causes the cells in the thickened area to die, resulting in the shrinkage of the tissue to a more normal size. This procedure is often preferred over septal myectomy in older patients due to the increased risks and complications of heart surgery with age.
- Implantable Cardioverter-Defibrillators (ICDs): ICDs are small devices placed just under the skin, connected to wire leads that are threaded through a vein to the heart. They constantly monitor the heart rhythm and deliver a small shock to restore a normal heart rhythm when a fast, abnormal rhythm is detected. ICDs are recommended for individuals at risk of life-threatening arrhythmias or sudden cardiac death.
The treatment plan for HCM may vary depending on several factors, and it is important to consult with a healthcare professional for personalized advice and to determine the most suitable treatment option for your specific condition.
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Frequently asked questions
The heart muscle can thicken due to hypertrophic cardiomyopathy (HCM), a condition where the heart muscle becomes thicker than usual, affecting its ability to pump blood effectively.
Symptoms of HCM include chest pain, palpitations, shortness of breath, and swelling in the lower body. However, many people with HCM do not experience any symptoms, while others may only exhibit symptoms during physical activity.
Treatment options for HCM include alcohol septal ablation, where alcohol is injected into the thickened heart muscle to reduce blockage, and septal myectomy, an open-heart surgery where the thickened muscle is removed to improve blood flow.
