hypertrophic cardiomyopathy 2

What is Hypertrophic Cardiomyopathy?

Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes thickened, also called hypertrophied [1]. This condition can lead to various complications and is often caused by abnormal genes in the body [2].

Some of the key features of HCM include:

• Thickening of the heart muscle, which can cause obstruction of blood flow
• Enlargement of one part of the heart, such as the left ventricle
• Abnormalities in the heart's electrical system, which can lead to arrhythmias

HCM is a genetic disease that affects both men and women, although it is more common in young people [3]. It is often inherited from parents who have the condition or carry the abnormal gene.

Symptoms of HCM may include:

• Chest pain or discomfort
• Shortness of breath
• Dizziness or lightheadedness
• Fainting spells

If you are experiencing any of these symptoms, it is essential to seek medical attention promptly. A diagnosis of HCM can be made through a combination of physical examination, electrocardiogram (ECG), echocardiogram, and genetic testing.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 7

Common Signs and Symptoms of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can manifest in various ways, and its symptoms may vary from person to person. Here are some common signs and symptoms associated with HCM:

• Chest pain: This is one of the most common symptoms of HCM, often occurring during exercise or physical activity [2]. Chest pain can also occur at rest or after meals.
• Shortness of breath: People with HCM may experience shortness of breath, especially when engaging in physical activities or even at rest [11].
• Heart murmurs: A heart murmur is a sound that occurs when blood flows through the heart abnormally. In people with HCM, this can be due to the thickened heart muscle obstructing blood flow [10].
• Fainting: Fainting, especially during or just after exercise or exertion, can also be a symptom of HCM [15].

It's essential to note that some people with HCM may not experience any symptoms at all, while others may only develop them later in life. If you're concerned about your heart health or are experiencing any of these symptoms, it's crucial to consult with a healthcare professional for proper evaluation and diagnosis.

References:

[2] Symptoms of hypertrophic cardiomyopathy can include one or more of the following: Chest pain, especially during exercise. [10] Hypertrophic cardiomyopathy (HCM) causes thickening of the heart muscle, particularly in the left ventricle in the lower part of the heart. This can lead to symptoms such as heart murmurs ... [11] Cardiomyopathy symptoms can include: Shortness of breath or trouble breathing with activity or even at rest. [15] Signs and 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, which a doctor might detect while listening to your heart.

Diagnostic Tests for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be diagnosed through a combination of medical history, physical examination, and various diagnostic tests.

• Medical History: A thorough review of your medical history is essential to identify any symptoms or conditions that may suggest HCM. This includes asking about your family history, as HCM can be inherited.
• Physical Examination: A physical exam by an experienced doctor can help identify signs of HCM, such as a heart murmur or abnormal electrocardiogram (ECG) readings.
• Diagnostic Tests:
  • Echocardiogram: An echocardiogram is the most common test used to diagnose HCM. It uses sound waves to create images of your heart and can show thickening of the heart walls.
  • Electrocardiogram (ECG): An ECG measures the electrical activity of your heart and can detect abnormal rhythms or patterns that may indicate HCM.
  • Exercise Test: An exercise test, also known as a stress test, can help assess how well your heart functions under physical exertion.
  • Magnetic Resonance Imaging (MRI): MRI scans can provide detailed images of the heart and its blood vessels, helping to diagnose HCM and rule out other conditions.

Genetic Testing: Genetic testing can also be used to diagnose HCM, particularly in individuals with a family history of the condition. This involves analyzing DNA from a blood sample to identify genetic mutations associated with HCM.

According to [5], an echocardiogram is the most common test used to diagnose hypertrophic cardiomyopathy, as it will usually show the thickening of your heart walls. Additionally, [8] states that echocardiography and CMR are synergistic for diagnosis in probands and family screening, and genetic testing can identify affected individuals.

References: [5] - Tests. An echocardiogram is the most common test used to diagnose hypertrophic cardiomyopathy, as this test will usually show the thickening of your heart walls ... [8] - by BJ Maron · 2022 · Cited by 332 — Echocardiography and CMR are synergistic for diagnosis in probands and family screening, and genetic testing can identify affected individuals ...

Current Drug Treatments for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition that affects the thickening of the heart muscle, making it harder for the heart to pump blood. While there is no specific drug treatment for HCM, various medications can help manage symptoms and improve quality of life.

Commonly Prescribed Medications

According to search results [5], commonly prescribed medications for HCM include:

• Beta blockers: These medications slow down the heart rate and reduce the force of contraction, which can help alleviate symptoms.
• Disopyramide: This medication is used to treat abnormal heart rhythms associated with HCM.
• Calcium channel blockers: These medications can help relax blood vessels and improve blood flow through the heart.
• Heart rhythm medications: These medications are used to regulate abnormal heart rhythms.
• Anticoagulants: These medications are used to prevent blood clots from forming in the heart.

New Investigational Medications

Research has shown that a new investigational cardiac medication, mavacamten [6], may improve heart function for people with thickened heart muscle leading to obstructed blood flow through the heart. Additionally, findings from a Cleveland Clinic-led clinical trial showed that the use of an experimental drug in severely symptomatic HCM patients significantly reduced the need for invasive procedures [9].

FDA Approval

The FDA has approved Camzyos (mavacamten) capsules to treat adults with symptomatic New York Heart Association (NYHA) class II-III obstructive hypertrophic cardiomyopathy (oHCM) to improve exercise capacity and symptoms [8]. This approval marks a significant development in the treatment of HCM.

Lifestyle Changes

While medications can help manage symptoms, patients with HCM can also play a major role in their own treatment by living a healthy lifestyle, staying fit, and avoiding activities that can compromise their condition [14].

In summary, while there is no specific drug treatment for hypertrophic cardiomyopathy, various medications can help manage symptoms and improve quality of life. New investigational medications, such as mavacamten, show promise in improving heart function and reducing the need for invasive procedures.

References:

[5] Search result: Commonly prescribed medications for HCM [6] Search result: Mavacamten improves heart function in HCM patients [8] Search result: FDA approval of Camzyos (mavacamten) capsules [9] Search result: Cleveland Clinic-led clinical trial on mavacamten [14] Search result: Lifestyle changes for HCM patients

Differential Diagnosis of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be challenging to diagnose due to its complex symptomatology and potential for devastating consequences. When considering the differential diagnosis, it's essential to exclude other conditions that may cause similar symptoms.

Common Causes of Acquired Left Ventricular Hypertrophy:

• Systemic hypertension: High blood pressure can lead to left ventricular hypertrophy, which may mimic HCM.
• Aortic stenosis: A narrowing of the aortic valve can cause left ventricular hypertrophy and potentially lead to symptoms similar to those experienced in HCM.

Other Conditions to Consider:

• Physiologic remodeling due to fitness: Athletes or individuals who engage in strenuous physical activity may experience physiologic remodeling, which can manifest with left ventricular hypertrophy.
• Mural thrombus: A blood clot in the heart can cause thickening of the left ventricular apex, leading to symptoms similar to those experienced in HCM.
• Hypertrabeculation or noncompaction: These conditions can also lead to thickening of the left ventricle and may be mistaken for HCM.

Important Considerations:

• Athlete's heart: A history of athletic achievement and strenuous training should help in differential diagnosis, as it can indicate physiologic remodeling rather than a pathological condition like HCM.
• Fabry disease, other storage diseases, and cardiac amyloidosis: These conditions can also cause left ventricular hypertrophy and may be considered in the differential diagnosis.

References:

• [8] Systemic hypertension and aortic stenosis are the most common causes of acquired left ventricular hypertrophy and should be excluded when HCM is suspected.
• [10] Physiologic remodeling due to fitness can also manifest with left ventricular hypertrophy and should be considered in the differential diagnosis.
• [12] The differential diagnosis for HCM includes increased left ventricular wall thickness due to acquired, syndromic (with other systemic involvement), and nonsyndromic (without other systemic involvement) disorders.