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Thickening of the heart muscle, or hypertrophic cardiomyopathy (HCM), is a condition that causes abnormal growth and thickening of the heart muscle cells. This can lead to a reduction in the size of the heart chambers, resulting in a decreased ability to pump blood and an increased workload for the heart. HCM is most often caused by abnormal genes in the heart muscle, but can also be influenced by other conditions that increase pressure on the heart, such as longstanding high blood pressure. Diagnosis involves various tests, including electrocardiograms (ECG) and echocardiograms (echo), while treatment options range from medications to surgical procedures such as septal myectomy and alcohol septal ablation.
| Characteristics | Values |
|---|---|
| Condition | Hypertrophic Cardiomyopathy (HCM) |
| Cause | Abnormal genes in the heart muscle |
| Symptoms | Thickened heart muscle, reduced blood flow, abnormal heart rhythm, shortness of breath, extreme tiredness, ankle swelling, heart valve problems, blood clots |
| Diagnosis | Electrocardiogram (ECG), Echocardiogram (echo), Stress echo, Continuous portable electrocardiogram monitoring, Cardiovascular MRI, Cardiac catheterization, Coronary angiography |
| Treatment | Alcohol septal ablation, Cardiothoracic surgery, Valve repair or replacement, Septal myectomy, Implantable cardioverter defibrillator (ICD) |
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What You'll Learn
Cardiomyopathy
HCM causes abnormal growth or thickening of the heart muscle, particularly the left ventricle, which can block blood flow to the rest of the body. The heart muscle cells enlarge more than they should, and scarring often develops between them. The ventricle can also become stiff, reducing its ability to relax and fill with blood. Symptoms of HCM include shortness of breath, dizziness, fainting, and chest pain (angina). However, most people with HCM have few or no symptoms, and the disease can often be managed through medication and regular monitoring.
In cases of severe symptoms or complications that do not respond to medication, surgical procedures may be considered. These include septal myectomy, where a portion of the septal wall is removed to increase blood flow to the ventricle, and alcohol septal ablation, where alcohol is injected into a coronary artery to shrink the thickened heart muscle and improve blood flow. Cardiomyopathy can also lead to arrhythmias, or irregular heartbeats, which may require the implantation of a cardioverter defibrillator to monitor and restore normal heart rhythm.
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Hypertrophic cardiomyopathy (HCM)
The thickened septum may bulge into the left ventricle and partially block the blood flow out to the body. This is called obstructive hypertrophic cardiomyopathy (HOCM). When this happens, the heart must work harder to get the blood out to the body. Because of thickened heart muscle, the inside of the left ventricle is smaller, so it holds less blood than normal. The ventricle can also become very stiff. As a result, it's less able to relax and fill with blood.
HCM is an autosomal dominant cardiac myocyte disease caused by mutations in sarcomere and sarcomere-related protein genes encoding for elements of the contractile machinery of the heart. About 60% of patients with HCM have a known gene mutation of the sarcomere or sarcomere-related genes, and obtaining a detailed family history is crucial to help in risk stratification for affected patients. A comprehensive patient history and thorough physical exam can also 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. Other tests include electrocardiogram (ECG), stress echo, continuous portable electrocardiogram monitoring, and cardiovascular MRI.
Treatment options include alcohol septal ablation, septal myectomy, implantable cardioverter defibrillator (ICD), and medications such as anticoagulants (blood thinners) and Mavacamten for the obstructive form of HCM.
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Genes and family history
Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes thickening (hypertrophy) of the heart muscle. It is a common form of genetic heart disease and can be inherited. HCM is caused by abnormal genes in the heart muscle, which lead to abnormal heart muscle cells that can eventually cause thickening of the heart. The genes that have been identified provide instructions for the structure and contraction of the heart muscle cells. For example, the TNNT2 and TNNI3 genes provide instructions for making cardiac troponin T and cardiac troponin I, respectively, which are two of the three proteins that make up the troponin protein complex found in cardiac muscle cells. The troponin complex controls muscle contraction and relaxation by regulating the interaction of the thick and thin filaments.
HCM is often passed from parents to children, and first-degree relatives of those diagnosed with HCM should also be checked. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. However, HCM also occurs in people with no family history, and these cases are considered nonfamilial hypertrophic cardiomyopathy. The severity of HCM can vary widely, even within the same biological family.
Diagnosis of HCM is based on medical history, family history, a physical exam, and diagnostic test results. A healthcare provider will listen to the heart and lungs with a stethoscope, and if they hear a swishing or whooshing sound called a murmur, this could indicate a problem with blood flow through the heart, which may suggest HCM. Several tests may be used to help diagnose HCM, including an electrocardiogram (ECG) to look for abnormalities in heart rhythm, an echocardiogram (echo) to confirm the diagnosis and provide more detailed information about the heart's structure and function, and a cardiovascular MRI to create detailed images of the heart.
Treatment options for HCM include medications such as anticoagulants (blood thinners) and surgical procedures such as septal myectomy and alcohol septal ablation. It is important for individuals with HCM to follow their healthcare provider's instructions, take prescribed medications, and attend regular monitoring appointments, even if they are asymptomatic.
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Heart surgery
Thickening of the heart muscle, or hypertrophic cardiomyopathy (HCM), is a type of heart disease that causes abnormal growth of the heart muscle. HCM is usually genetic, but it can also be caused by other conditions that increase pressure on the heart, such as longstanding high blood pressure.
For people with severe symptoms or complications that don't respond to medication, heart surgery may be recommended. Here is some information about the two main types of heart surgery for HCM:
Septal Myectomy
Septal myectomy, or septal reduction therapy, is an open-heart surgery performed under general anaesthesia. During the procedure, the surgeon removes a portion of the thickened septal wall, or septum, that separates the left and right ventricles, the two lower chambers of the heart. This widening of the ventricular septum improves blood flow by allowing more blood to fill the left ventricle and be pumped out to the body. The procedure may also involve repair or replacement of heart valves.
Septal myectomy is considered a safe option with a low risk of complications. However, as with any surgery, there are potential risks, including irregular heart rhythms, which may require the implantation of a pacemaker. The risks of complications from septal myectomy increase with age, and younger patients are often preferred candidates for this procedure.
Alcohol Septal Ablation
Alcohol septal ablation is a minimally invasive, nonsurgical procedure. During the procedure, a small incision is made in the groin, and ethanol (a type of alcohol) is injected through a tube into the coronary artery supplying blood to the thickened heart muscle. The alcohol causes the destruction of the thickened tissue, allowing it to shrink to a more normal size and improving blood flow. This procedure may be preferred for older patients or those who are not suitable candidates for septal myectomy.
It is important to discuss the risks and benefits of each procedure with a healthcare provider to determine the most appropriate treatment option.
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High blood pressure
When the heart muscle thickens due to high blood pressure, it can result in a condition called hypertrophic cardiomyopathy (HCM). HCM causes an abnormal growth of the heart muscle, specifically the walls of the ventricles and the septum, which is the muscular wall that separates the left and right ventricles.
In some cases, HCM can lead to obstructive hypertrophic cardiomyopathy (HOCM), where the thickened septum bulges into the left ventricle and partially blocks the blood flow out of the heart. This blockage forces the heart to work harder to pump blood out to the body. Additionally, the thickened heart muscle reduces the size of the left ventricle, further limiting the amount of blood it can hold and pump.
The treatment options for HCM caused by high blood pressure include medications, surgical procedures, and lifestyle changes. Medications such as Mavacamten are used to treat the obstructive form of HCM. Surgical procedures like septal myectomy and alcohol septal ablation aim to reduce the obstruction by removing or shrinking the thickened heart muscle, improving blood flow. Lifestyle changes, including staying active, maintaining a healthy weight, and managing conditions like high blood pressure, are also recommended to prevent heart complications.
It is important to note that not all cases of thickening of the heart muscle are due to HCM, and other genetic and non-genetic conditions can contribute to this issue. An accurate diagnosis is essential to determine the underlying cause and guide the most effective treatment approach.
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Frequently asked questions
Thickening of the heart muscle is called hypertrophic cardiomyopathy (HCM).
HCM is most often caused by abnormal genes in the heart muscle. These genes cause the walls of the heart chamber to become thicker than normal.
Most people with HCM have few or no symptoms. However, some people may experience shortness of breath, extreme tiredness, ankle swelling, heart valve problems, irregular heartbeat, and blood clots.
HCM can be treated with medications, surgical procedures, or a combination of both. Medications may include blood thinners such as warfarin, while surgical procedures may involve septal myectomy or alcohol septal ablation.
