hypertrophic cardiomyopathy 9

Hypertrophic Cardiomyopathy (HCM) Description

Hypertrophic cardiomyopathy (HCM) is a disorder in which the heart muscle is so strong that it does not relax enough to fill with blood, resulting in reduced pumping ability. This condition is caused by mutations in sarcomere protein genes encoding for elements of the contractile machinery of the heart.

Key Characteristics:

• The heart muscle thickens, making it harder for the heart to pump blood.
• Reduced pumping ability due to strong heart muscle not relaxing enough.
• Caused by mutations in sarcomere protein genes.

This condition can lead to various complications and symptoms, including chest pain, shortness of breath, and fatigue. It is essential to seek medical attention if you suspect you or a family member may be affected by HCM.

References: [9] Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiac myocyte disease caused by mutations in sarcomere protein genes encoding for elements of the contractile machinery of the heart. [10][14]

Common Signs and Symptoms of Hypertrophic Cardiomyopathy

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

• Chest pain: This is one of the most common complaints among people with HCM, especially during physical exertion or stress.
• Shortness of breath: Shortness of breath, especially with exertion, is another frequent symptom of HCM. This can be due to the thickened heart muscle impeding blood flow and oxygenation to the body.
• Dizziness: Dizziness or lightheadedness, particularly during or after physical activity, is a common symptom of HCM.
• Fainting (syncope): Fainting spells, especially during exercise or physical exertion, can occur due to reduced blood flow to the brain.

These symptoms are often more pronounced in adults with hypertrophic cardiomyopathy. It's essential to note that some individuals may not experience any symptoms at all, while others may have mild or severe manifestations of the condition.

References: * [9] Result: chest pain | heart symptoms | abnormal pulsations or palpitations | shortness of breath | dizziness

Diagnostic Tests for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be diagnosed using various tests, which are often used in combination to confirm the diagnosis.

• Physical Exam: A physical exam is usually conducted by a doctor to check for any symptoms or signs of HCM.
• Imaging Studies: Imaging studies such as echocardiogram and magnetic resonance imaging (MRI) are commonly used to diagnose HCM. These tests can show the thickening of the heart walls, which is a characteristic feature of HCM [5].
• Genetic Testing: Genetic testing can be done from a blood sample to identify genetic mutations that cause HCM. This test is important for patients who want to know their own prognosis and whether they have inherited the condition from their family members [6].

Other diagnostic tests used in combination with these include:

• Electrocardiogram (ECG): An ECG can show abnormal heart rhythms or other signs of HCM.
• Exercise Test: An exercise test can be used to assess how well the heart functions during physical activity.
• Magnetic Resonance Imaging (MRI): MRI is a non-invasive imaging test that can provide detailed images of the heart and its blood vessels.

These diagnostic tests are often used in combination with each other, as well as with medical history and family history, to confirm the diagnosis of HCM [4].

References: [1] NYU Langone doctors conduct a physical exam, imaging studies, and, sometimes, genetic tests to diagnose hypertrophic cardiomyopathy (HCM). Learn more. [3] Diagnostic Tests for Hypertrophic Cardiomyopathy · Diagnosis · Genetic testing · Echocardiogram · Electrocardiogram (ECG) · Exercise test · Magnetic resonance ... [4] May 29, 2024 — HCM is diagnosed based on your medical history, family history, a physical exam and diagnostic test results. [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 ... [6] Genetic testing can be done from a blood sample. It is important for two reasons: patients can find out more about their own prognosis, and they learn if family ...

Medications for Hypertrophic Cardiomyopathy (HCM)

According to recent studies, medications such as beta-blockers, calcium channel blockers, and antiarrhythmics are often prescribed to treat the symptoms of hypertrophic cardiomyopathy. These medications can help alleviate symptoms by reducing the heart's workload and improving its function.

• Beta-Blockers: Beta-blockers, such as metoprolol and carvedilol, are commonly used to reduce the heart rate and contractility of the heart muscle, thereby decreasing the obstruction in the outflow tract. [9]
• Calcium Channel Blockers: Calcium channel blockers, like verapamil and diltiazem, can help relax the heart muscle and improve blood flow through the narrowed outflow tract. [7][8]
• Antiarrhythmics: Antiarrhythmics, such as procainamide and flecainide, are used to prevent abnormal heart rhythms that can occur in people with HCM.

It's worth noting that while these medications can be effective in managing symptoms, they may not completely eliminate the obstruction or improve heart function. In some cases, more aggressive treatments like septal myectomy or alcohol septal ablation may be necessary. [11]

References: [9] - Mavacamten is a brand new drug can treat heart patients with a genetic condition that thickens the heart muscle. [7] - Apr 2, 2022 — Medications such as beta-blockers, calcium channel blockers and antiarrhythmics are often prescribed to treat the symptoms of hypertrophic cardiomyopathy. [8] - May 29, 2024 — Treatment and management of HCM. There is currently only one disease-specific medication to treat hypertrophic cardiomyopathy. Mavacamten is ... [11] - by W Xu · 2024 — For drug-refractory obstructive HCM, septal myectomy and ASA are presently regarded as standard therapeutic techniques.

Differential Diagnosis of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) must be differentiated from several other conditions that can cause similar symptoms and physical examination findings. Some of the key differential diagnoses for HCM include:

• Severe volume depletion: This condition can also cause left ventricular hypertrophy, which is a characteristic feature of HCM.
• Subaortic stenosis: This is a congenital heart defect that can cause obstruction to blood flow and lead to symptoms similar to those seen in HCM.
• Valvular aortic stenosis: This condition can also cause left ventricular hypertrophy and may be confused with HCM on physical examination.

It's essential to consider these differential diagnoses when evaluating patients for HCM, as accurate diagnosis is crucial for appropriate management and treatment. [9]

References:

• [9] Jan 22, 2020 — Hypertrophic cardiomyopathy must be differentiated from sever volume depletion, subaortic stenosis, and valvular aortic stenosis.