hypertrophic cardiomyopathy 26

Hypertrophic Cardiomyopathy (HCM) Description

Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes thickened, leading to various complications. This thickening can occur in one or both ventricles of the heart and can be caused by abnormal genes.

Causes and Characteristics:

• HCM is most often caused by inherited genetic mutations [1].
• The heart muscle cells enlarge more than normal, causing the heart wall to become thicker [6].
• This thickening can lead to obstruction of blood flow out of the heart, reducing its pumping ability [10].

Symptoms and Complications:

• HCM may not show any symptoms in some individuals, while others might experience chest pain, shortness of breath, or fainting spells [5].
• The condition can also cause thickening in other parts of the heart, leading to further complications [3].

References: [1] - May 29, 2024 [6] - June (no date available) [10] - May 15, 2024

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 complaints among people with HCM, especially during physical exertion [2].
• Shortness of breath: Shortness of breath, particularly with exercise or physical activity, can be a symptom of HCM [3].
• Fatigue: Feeling tired or exhausted, even after minimal physical activity, is another common symptom [4].
• Dizziness and fainting spells: Some people may experience dizziness or fainting spells, especially during exercise or physical exertion [5].
• Irregular heartbeat (arrhythmia): An irregular heartbeat can be a sign of HCM, which can lead to palpitations or other cardiac issues [6].
• Palpitations: Palpitations, or an abnormal heart rhythm, are another symptom that may occur in people with HCM [7].

It's essential to note that not everyone with HCM will experience all of these symptoms. Some individuals might only have mild symptoms, while others may experience more severe and debilitating symptoms.

References: [1] Not provided (user query) [2] May 29, 2024 - Signs, symptoms and risks · Chest pain, especially with physical exertion [3] Difficulty breathing (shortness of breath) and fatigue, especially with exertion. [4] What Is Hypertrophic Cardiomyopathy? · Fatigue [5] May 8, 2024 — Symptoms · Fainting, especially during exercise [6] Symptoms and Signs of Hypertrophic Cardiomyopathy · palpitations [7] by H Basit · 2023 · Cited by 24 — Palpitations

Diagnostic Tests for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be diagnosed using various tests, which are essential in confirming the condition and ruling out other possible causes. Here are some of the diagnostic tests used to diagnose HCM:

• Echocardiogram: An echocardiogram is the most common test used to diagnose HCM. It uses sound waves to create images of the heart, allowing doctors to measure the thickness of the heart muscle and assess its function [4]. The test can show thickening of the heart walls, which is a characteristic feature of HCM.
• Electrocardiogram (ECG): An ECG measures the electrical activity of the heart. While it may not be diagnostic on its own, an abnormal ECG reading can suggest HCM [8].
• Cardiac Magnetic Resonance Imaging (MRI): Cardiac MRI is a non-invasive test that uses magnetic fields and radio waves to create detailed images of the heart. It can help diagnose HCM by showing thickening of the heart muscle and other abnormalities [3].
• Genetic testing: Genetic testing can be done from a blood sample to identify gene mutations associated with HCM. This is particularly useful for individuals with a family history of the condition or those who have already been diagnosed with HCM [6].

These diagnostic tests are essential in confirming the diagnosis of hypertrophic cardiomyopathy and ruling out other possible causes. A combination of these tests, along with a thorough medical history and physical examination, can help doctors make an accurate diagnosis.

References:

[3] Feb 27, 2020 — Echocardiography is the key to diagnosis and MRI may play a future role in sudden death risk stratification. Assessment for genetically mediated ... (Search Result 3)

[4] May 29, 2024 — Diagnosis is typically done by echocardiogram. It checks the function and thickness of the heart muscle and how the blood flows through the ... (Search Result 5)

[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 ... (Search Result 6)

Treatment Options for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition that can be treated with various medications and, in some cases, surgery. The primary goals of treatment are to ease symptoms, prevent sudden cardiac death, and improve quality of life.

• Medications: Medicines such as beta blockers, disopyramide, calcium channel blockers, and anticoagulants may be prescribed to reduce the heart's workload, slow the heart rate, and prevent blood clots. These medications can help alleviate symptoms and improve exercise capacity [1][2].
• Surgery: In some cases, surgery may be necessary to relieve obstruction in the heart or to implant a device that helps regulate the heartbeat. Surgery is typically considered for patients with severe symptoms who do not respond to medication [3].

New Treatment Options

Recently, a new drug called mavacamten has been approved by the FDA to treat adults with symptomatic obstructive hypertrophic cardiomyopathy (oHCM). Mavacamten works by reducing the thickness of the heart muscle and improving exercise capacity [4][5]. This medication offers a promising treatment option for patients with HCM.

Other Treatment Considerations

In addition to medications, other treatment considerations include:

• Heart rhythm medications: These medications can help regulate an abnormal heartbeat.
• Anticoagulants: These medications can prevent blood clots from forming in the heart.
• Lifestyle modifications: Patients with HCM may need to make lifestyle changes, such as avoiding strenuous exercise or heavy lifting, to manage symptoms and prevent complications.

It's essential for patients with HCM to work closely with their healthcare provider to determine the best treatment plan for their individual needs.

Differential Diagnosis of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic disorder that affects the heart muscle, causing it to become thickened and leading to various complications. To accurately diagnose HCM, other conditions must be ruled out first. Here are some key differential diagnoses for HCM:

• Fabry disease: This rare genetic disorder can cause similar symptoms to HCM, including left ventricular hypertrophy [3].
• Mural thrombus: A blood clot in the heart that can mimic the appearance of HCM on echocardiography [4].
• Hypertrabeculation or non-compaction: A condition where the heart muscle is abnormally thickened, which can be mistaken for HCM [5].
• Endomyocardial fibrosis: A rare condition where the inner lining of the heart becomes scarred and thickened, similar to HCM [5].
• Systemic hypertension and aortic stenosis: These conditions can cause acquired left ventricular hypertrophy, which may be mistaken for HCM [6].

It's essential to note that differential diagnosis is most challenging when the maximal LV wall thickness is in the range of 13 to 18 mm, consistent with both diseases [8]. Therefore, a thorough evaluation and exclusion of other conditions are necessary to confirm an accurate diagnosis of HCM.

References:

[3] - Fabry disease can cause similar symptoms to HCM, including left ventricular hypertrophy. [4] - Mural thrombus is a blood clot in the heart that can mimic the appearance of HCM on echocardiography. [5] - Hypertrabeculation or non-compaction and endomyocardial fibrosis are conditions that can be mistaken for HCM. [6] - Systemic hypertension and aortic stenosis can cause acquired left ventricular hypertrophy, which may be mistaken for HCM. [8] - Differential diagnosis is most challenging when the maximal LV wall thickness is in the range of 13 to 18 mm, consistent with both diseases.