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familial hypertrophic cardiomyopathy
Description
Familial hypertrophic cardiomyopathy (FHCM) is a heart condition characterized by thickening (hypertrophy) of the heart muscle, specifically the cardiac muscle [3]. This thickening makes it harder for the heart to pump blood efficiently. The condition can affect both children and adults, and its severity can vary from person to person.
The main features of FHCM include:
- Thickening of the left or right ventricular walls
- Asymmetric hypertrophy, where one side of the heart is thicker than the other
- Abnormalities in the heart's pumping function
- Potential complications such as heart failure, arrhythmias, and sudden cardiac death
FHCM is often inherited, meaning it can be passed down from parents to children through genetic mutations [6]. The condition is caused by abnormalities in the genes that encode proteins of the myofibrillar apparatus, which are essential for the proper functioning of the heart muscle.
Symptoms of FHCM may include chest pain, shortness of breath, fatigue, and palpitations. In some cases, individuals with FHCM may not experience any symptoms at all [8]. Early detection and treatment can help manage the condition and prevent potential complications.
References: [3] - Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. [6] - Sep 21, 1998 — Familial hypertrophic cardiomyopathy is a disease of the sarcomere involving mutations in 7 different genes encoding proteins of the myofibrillar apparatus. [8] - Hypertrophic cardiomyopathy thickens the main pumping chamber of the heart. Often inherited, HCM can cause serious complications. Learn the symptoms.
Additional Characteristics
- Heart failure
- Shortness of breath
- Palpitations
- Fatigue
- Chest pain
- Arrhythmias
- Sudden cardiac death
- Thickening (hypertrophy) of the heart muscle
- Thickening of the left or right ventricular walls
- Asymmetric hypertrophy
- Abnormalities in the heart's pumping function
Signs and Symptoms
Familial hypertrophic cardiomyopathy (FHCM) can manifest in various ways, and its symptoms may vary from person to person. Here are some common signs and symptoms associated with FHCM:
- Chest pain: This is a common symptom, especially during physical exertion [1]. The chest pain can be sharp or dull and may radiate to the arms, neck, or jaw.
- Shortness of breath: People with FHCM may experience shortness of breath, particularly when engaging in physical activities [2]. This is due to the heart's inability to pump enough blood efficiently.
- Fatigue: Fatigue is another symptom that can occur, especially after physical exertion [4].
- Heart palpitations: Some individuals may experience heart palpitations or a sensation of fluttering or pounding in the chest (palpitations) [5].
- Lightheadedness and dizziness: These symptoms can occur due to decreased blood flow to the brain [6].
- Fainting: In some cases, people with FHCM may faint or pass out, especially during physical exertion [3].
It's essential to note that many individuals with FHCM are asymptomatic or have only mild symptoms. However, if you're experiencing any of these symptoms, it's crucial to consult a doctor for proper evaluation and diagnosis.
References: [1] Jan 18, 2023 — Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a ... [2] Feb 23, 2024 — Many conditions can cause shortness of breath and fast, pounding heartbeats. It's important to get a prompt checkup to find the cause and ... [3] These symptoms are more common in adults with hypertrophic cardiomyopathy. Increased pressure in the left atrium and lungs is the cause. Fainting or passing out ... [4] May 29, 2024 — Signs, symptoms and risks · Chest pain, especially with physical exertion · Shortness of breath, especially with physical exertion · Fatigue ... [5] What are the symptoms? · chest pain · shortness of breath · a sensation of fluttering or pounding in the chest (palpitations) · lightheadedness · dizziness · fainting. [6] While many children with HCM have no symptoms, some may experience symptoms with exercise which may include lightheadedness, difficulty breathing or chest pain.
Additional Symptoms
- Fainting
- Shortness of breath
- Heart palpitations
- Lightheadedness and dizziness
- chest pain
- fatigue
Diagnostic Tests
Diagnostic Tests for Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy (HCM) is a genetic disorder that affects the heart muscle, leading to thickening of the heart walls. Accurate diagnosis is crucial for effective management and treatment. Here are some diagnostic tests used to diagnose HCM:
- Genetic Testing: Genetic testing can identify mutations in genes associated with HCM, such as MYH7, MYBPC3, and TNNT2 [1]. This test can confirm the presence of a genetic mutation that causes HCM.
- Echocardiogram: An echocardiogram is an ultrasound examination of the heart that can detect thickening of the heart walls, which is characteristic of HCM [4].
- Electrocardiogram (ECG): An ECG measures the electrical activity of the heart and can show abnormal patterns associated with HCM, such as a prolonged QT interval [5].
- Exercise Test: An exercise test, also known as a stress test, can be used to assess the heart's response to physical exertion. In individuals with HCM, this test may reveal signs of cardiac dysfunction, such as chest pain or shortness of breath [5].
- Magnetic Resonance Imaging (MRI): MRI can provide detailed images of the heart and detect abnormalities in the heart muscle, such as thickening or scarring [6].
Additional Tests
In addition to these diagnostic tests, a thorough medical history and physical examination are essential for diagnosing HCM. A cardiologist may also recommend other tests, such as:
- Cardiac catheterization: This test involves inserting a catheter into the heart to measure blood pressure and flow.
- Imaging studies: Other imaging studies, such as computed tomography (CT) or positron emission tomography (PET), may be used to assess cardiac function and detect any complications.
References
[1] Girolami F. Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM). 2023 [2] Ireland CG. Genetics of Hypertrophic Cardiomyopathy. 2024 [3] Symptoms and Causes of Hypertrophic Cardiomyopathy. NYU Langone Health. [4] Diagnostic Tests for Hypertrophic Cardiomyopathy. [5] Jul 21, 2015 — A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD). Eur Heart J. 2014;35(30):2010‑20. [6] by CG Ireland · 2024 · Cited by 4 — Genetics of Hypertrophic Cardiomyopathy. Variants implicated in HCM are predominantly found in genes encoding cardiac-specific isoforms of ...
Additional Diagnostic Tests
- Electrocardiogram (ECG)
- Magnetic Resonance Imaging (MRI)
- Genetic Testing
- Echocardiogram
- Exercise Test
Treatment
Treatment Options for Familial Hypertrophic Cardiomyopathy
Familial hypertrophic cardiomyopathy (FHCM) is a genetic heart condition that can be inherited from parents to offspring. While there is no cure for FHCM, various treatment options are available to manage the symptoms and prevent complications.
- Beta-Blockers: Beta-blockers, such as metoprolol and carvedilol, are commonly used to treat FHCM. These medications help slow down the heart rate and reduce the thickness of the heart muscle, thereby improving cardiac function [1].
- Calcium Channel Blockers: Calcium channel blockers, like diltiazem, can also be prescribed to manage symptoms in patients with FHCM. These medications work by relaxing the muscles around the heart, which helps improve blood flow and reduce symptoms [2].
- Disopyramide: Disopyramide is another medication that may be used to treat FHCM. It works by slowing down the electrical activity of the heart, thereby reducing the thickness of the heart muscle and improving cardiac function [4].
Other Treatment Options
In addition to medications, other treatment options are available for patients with FHCM.
- Genetic Counseling: Genetic counseling is an essential part of managing FHCM. It helps identify individuals who may be at risk of inheriting the condition and provides guidance on how to manage it [3].
- Implantable Defibrillator: An implantable defibrillator (ICD) may be recommended for patients with FHCM who are at high risk of sudden cardiac death (SCD). The ICD helps monitor the heart's electrical activity and deliver a shock if an abnormal heartbeat is detected [5].
New Developments
Recent studies have shown promising results in the development of new treatments for FHCM. For example, researchers have been exploring the use of precision medications to target specific genetic mutations associated with the condition [6]. These advancements hold great promise for improving treatment outcomes and quality of life for patients with FHCM.
References:
[1] Cited by 39 - Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. Eur J Heart Fail. 2006;8(2):115–121.
[2] Hypertrophic cardiomyopathy (HCM) is widely recognized as one of the most common inheritable cardiac disorders.
[3] Genetic counseling · A precision medication · A brighter future · Referring ...
[4] Beta-blockers, calcium channel blockers and disopyramide · Implantable defibrillator · Septal ...
[5] by W Xu · 2024 — Additionally, the development of atrial fibrillation (AF), heart failure, and sudden cardiac death (SCD) are also significantly influenced by ...
[6] May 29, 2024 — Hypertrophic cardiomyopathy is often inherited and is a common form of genetic heart disease. It can happen at any age, but most receive a ...
Recommended Medications
- Beta-Blockers
- Calcium Channel Blockers
- disopyramide
- Disopyramide
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Familial hypertrophic cardiomyopathy (FHCM) can be challenging to diagnose, and a thorough differential diagnosis is essential to rule out other conditions that may present with similar symptoms. Here are some key points to consider:
- Hypertensive heart disease: This condition can cause left ventricular hypertrophy, which may resemble the thickening of the heart muscle seen in FHCM [1].
- Aortic stenosis: A narrowing of the aortic valve can lead to left ventricular hypertrophy and symptoms similar to those experienced by individuals with FHCM [6].
- Restrictive cardiomyopathy: This condition is characterized by stiffened heart muscles that make it difficult for the heart to fill with blood, leading to symptoms such as shortness of breath and fatigue [6].
- Fabry disease: A genetic disorder that can cause thickening of the heart muscle, similar to FHCM, but also involves other systems in the body [7].
- Amyloidosis: A condition where abnormal proteins accumulate in the heart, leading to stiffened heart muscles and symptoms similar to those experienced by individuals with FHCM [7].
To differentiate FHCM from these conditions, clinicians should consider the following:
- Family history: A thorough family history is essential to identify a pattern of inheritance that may suggest FHCM.
- Physical examination: A careful physical examination can help identify signs such as a heart murmur or thickening of the heart muscle.
- Imaging studies: Echocardiography and cardiac MRI can provide valuable information about the structure and function of the heart, helping to differentiate between conditions.
- Genetic testing: Genetic testing can confirm the presence of mutations in genes associated with FHCM.
It's essential for clinicians to consider these differential diagnoses when evaluating patients suspected of having FHCM. A thorough evaluation and accurate diagnosis are crucial to provide appropriate management and treatment for affected individuals.
References:
[1] Context 4 [6] Context 6 [7] Context 7
Additional Differential Diagnoses
Additional Information
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