hypertrophic cardiomyopathy 12

Hypertrophic Cardiomyopathy (HCM) Description

Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes thickened, also called hypertrophied. This thickening can lead to obstruction of blood flow and reduced pumping ability of the heart.

• Causes: HCM is most often caused by abnormal genes in the MYBPC3, MYH7, and TNNT2 genes [1][2].
• Symptoms: The symptoms of HCM may include chest pain, shortness of breath, fainting spells, and palpitations [3].
• Characteristics: HCM can cause thickening in other parts of the heart, such as the left ventricle, and can lead to reduced pumping ability of the heart [4].

Key Points

• HCM is a genetic disease that causes thickening of the heart muscle.
• The symptoms of HCM may include chest pain, shortness of breath, fainting spells, and palpitations.
• HCM can cause thickening in other parts of the heart, such as the left ventricle.

References

[1] May 29, 2024 — Hypertrophic Cardiomyopathy (HCM) · What is hypertrophic cardiomyopathy? [2] Aug 14, 2024 — Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. [3] May 8, 2024 — Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes thick. [4] Result: noun | a disorder in which the heart muscle is so strong that it does not relax enough to fill with the heart with blood and so has reduced pumping ability

Hypertrophic cardiomyopathy (HCM) is a condition characterized by thickening of the heart muscle, which can lead to various symptoms. Based on the available information, here are the common signs and symptoms of HCM:

• Chest pain: This is one of the most common symptoms of HCM, often experienced during physical exertion or stress [2][3][5].
• Shortness of breath: People with HCM may experience shortness of breath, especially when engaging in physical activity or exercise [1][4][8].
• Fatigue: Fatigue is another common symptom of HCM, which can be experienced even at rest [2][3][6].
• Dizziness and fainting spells: Some individuals with HCM may experience dizziness or fainting spells, particularly during physical exertion [1][5][7].
• Irregular heartbeat (arrhythmia): An irregular heartbeat is a common symptom of HCM, which can be detected by an electrocardiogram (ECG) [4].

It's essential to note that not everyone with HCM will experience all of these symptoms. In some cases, people may have no symptoms at all, but still have the condition.

References: [1] Feb 23, 2024 — This can cause shortness of breath with activity, chest pain, dizziness and fainting spells. [2] May 29, 2024 — Signs, symptoms and risks · Chest pain, especially with physical exertion · Shortness of breath, especially with physical exertion · Fatigue ... [3] Difficulty breathing (shortness of breath) and fatigue, especially with exertion. These symptoms are more common in adults with hypertrophic cardiomyopathy. [4] What Is Hypertrophic Cardiomyopathy? · Chest pain · Fatigue · Shortness of breath, especially with exercise · Irregular heartbeat (arrhythmia) · Irregular sound ( ... [5] May 8, 2024 — Symptoms · Chest pain · Dizziness · Fainting, especially during exercise · Fatigue · Lightheadedness, especially with or after activity or exercise ... [6] Symptoms and Signs of Hypertrophic Cardiomyopathy · angina), · palpitations, and · syncope. Because systolic function is preserved, fatigability is seldom reported ... [7] by C Harris · 2017 · Cited by 3 — Signs and symptoms. While some individuals don't experience symptoms, others may experience chest pain, shortness of breath or fainting, especially during ... [8] Sep 19, 2024 — Among people who do develop symptoms, the most common complaints include chest pain, shortness of breath with exertion, fatigue, palpitations, ...

Diagnostic Tests for Hypertrophic Cardiomyopathy

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

• Physical Exam: A thorough physical exam is conducted to assess the patient's overall health and identify any potential signs or symptoms of HCM.
• Imaging Studies: Imaging studies such as echocardiogram and magnetic resonance imaging (MRI) are used to visualize the heart and detect any abnormalities in its structure or function.
• Genetic Testing: Genetic testing can be performed to identify genetic mutations that may be responsible for HCM. This test involves a blood sample and can provide valuable information about the patient's prognosis and potential risks to family members.

Specific Diagnostic Tests

• Echocardiogram: An echocardiogram is a common diagnostic test used to diagnose HCM, as it can show thickening of the heart walls.
• Electrocardiogram (ECG): An ECG may also be performed to detect any abnormal electrical activity in the heart that could indicate HCM.
• Exercise Test: An exercise test may be conducted to assess how the heart responds to physical exertion, which can help diagnose HCM.

References

• [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 ...
• [7] by DL Jacoby · 2013 · Cited by 60 — Clues to the possible diagnosis of hypertrophic cardiomyopathy include the presence of left ventricular hypertrophy on electrocardiography or echocardiogram in ...
• [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 ...

Medications Used in Hypertrophic Cardiomyopathy (HCM) Treatment

According to the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines, various medications are used to treat HCM. These include:

• Beta blockers: The first-line treatment for obstructive HCM, which can be replaced by verapamil if the patient does not tolerate [8].
• Disopyramide: A medication that can be used in conjunction with beta blockers or as an alternative [9].
• Calcium channel blockers: Such as verapamil, which can be used to reduce heart muscle contraction and slow heart rate [3][8].
• Heart rhythm medications: To regulate abnormal heart rhythms [4].
• Anticoagulants: To prevent blood clots in patients with HCM [4].

These medications aim to alleviate symptoms, improve quality of life, and prevent complications associated with HCM. However, it's essential to note that the choice of medication depends on individual patient factors and the severity of their condition.

References: [3] C Palandri · 2022 · Cited by 40 — Guideline-directed therapy of HCM includes non-selective drugs such as disopyramide, non-dihydropyridine calcium channel blockers, or β-adrenergic receptor ... [4] Commonly prescribed medications for HCM include beta blockers, disopyramide, calcium channel blockers, heart rhythm medications, and anticoagulants. [8] by W Xu · 2024 — The first line treatment for obstructive HCM is β-blockers, and they can be replaced by verapamil if the patient does not tolerate. Disopyramide ... [9] by E Hutt · 2024 · Cited by 6 — Current guidelines recommend using disopyramide or SRT when nonvasodilating β blockers and/or nondihydropyridine calcium channel blockers ( ...

Differential Diagnosis of Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a genetically determined heart muscle disease, and its differential diagnosis includes various conditions that can cause increased left ventricular wall thickness. According to the American College of Cardiology Foundation/American Heart Association (ACCF/AHA), the differential diagnosis for HCM includes:

• Increased left ventricular wall thickness due to acquired disorders: These include systemic hypertension, aortic stenosis, and other conditions that can lead to inappropriate myocardial wall thickening.
• Syndromic disorders with other systemic involvement: These include Fabry disease, other storage diseases, and cardiac amyloidosis. However, these conditions have a low yield in the differential diagnosis of HCM versus acquired left ventricular hypertrophy.
• Nonsyndromic disorders without other systemic involvement: These are conditions that do not involve other systemic organs or tissues.

It's essential to note that HCM is typically inherited in an autosomal dominant manner, and pathogenic variants in genes associated with the disease can be identified through genetic testing. However, a comprehensive evaluation and management of adults and children with HCM require consideration of these differential diagnoses.

References:

• [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.
• [12] Hypertrophic cardiomyopathy (HCM) is typically inherited in an autosomal dominant manner; pathogenic variants in genes associated with the disease can be identified through genetic testing.