hypertrophic cardiomyopathy

Hypertrophic Cardiomyopathy (HCM) Description

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].

Key Characteristics:

• Thickening of the heart muscle, which can cause obstruction to blood flow
• Enlargement of the heart muscle cells (myocytes)
• Reduced pumping ability of the heart

Causes and Risk Factors:

• Genetic mutations in sarcomere protein genes encoding for myosin heavy chain [5]
• Autosomal dominant inheritance pattern, meaning a single copy of the mutated gene is enough to cause the condition
• Other risk factors may include family history, age, and sex

Symptoms and Complications:

• Shortness of breath (dyspnea)
• Chest pain or discomfort
• Fatigue
• Dizziness or lightheadedness
• Reduced exercise tolerance
• In severe cases, HCM can lead to heart failure, arrhythmias, and sudden cardiac death [9]

References:

[1] Context result 1: Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes thickened, also called hypertrophied. [2] Context result 2: Hypertrophic Cardiomyopathy (HCM) · What is hypertrophic cardiomyopathy? Hypertrophic cardiomyopathy is most often caused by abnormal genes in ... [3] Context result 4: Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes thick. Sometimes, only one part of the heart is thicker ... [5] Context result 5: by H Basit · 2023 · Cited by 24 — Hypertrophic cardiomyopathy (HCM) is an autosomal dominant cardiac myocyte disease caused by mutations in sarcomere protein genes encoding ... [9] Context result 9: by AJ Marian · 2017 · Cited by 1336 — Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary ...

Hypertrophic cardiomyopathy (HCM) is a condition characterized by thickening of the heart muscle, which can lead to various signs and symptoms. Here are some common ones:

• Chest pain: This is one of the most common symptoms of HCM, especially with physical exertion [2]. It's often described as a squeezing or pressure sensation in the chest.
• Shortness of breath: People with HCM may experience shortness of breath, particularly when engaging in physical activity [3]. This can be due to the thickened heart muscle not being able to pump blood efficiently.
• Fatigue: Fatigue is another common symptom of HCM, which can make everyday activities feel more exhausting than usual [4].
• Dizziness and fainting spells: Some individuals with HCM may experience dizziness or fainting spells, especially during physical exertion [5]. This can be due to a sudden drop in blood pressure.
• Irregular heartbeat (arrhythmia): An irregular heartbeat is another symptom of HCM, which can feel like an abnormal rhythm or palpitations [6].
• Palpitations: Palpitations are a common symptom of HCM, characterized by a feeling of skipped beats or an irregular heart rate [7].

It's essential to note that not everyone with HCM will experience all of these symptoms. Some people may have mild symptoms, while others may have more severe ones.

References: [1] Not applicable (this is the start of the answer) [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 help identify the thickening of the heart muscle and assess its impact on blood flow. Here are some common diagnostic tests used to diagnose HCM:

• Echocardiogram: This is the most common test used to diagnose HCM [4][5]. An echocardiogram uses sound waves to create images of the heart, allowing doctors to measure the thickness of the heart muscle and assess blood flow.
• Electrocardiogram (ECG): An ECG measures the electrical activity of the heart and can show signs of abnormal heart rhythms [7].
• Exercise test: This test involves exercising on a treadmill or stationary bike while hooked up to an ECG machine. It helps doctors assess how the heart responds to physical stress.
• Magnetic resonance imaging (MRI): While not as commonly used for diagnosis, MRI can provide detailed images of the heart and help identify areas of thickened muscle [2][9].
• Genetic testing: Genetic testing can be done from a blood sample and is important for identifying family members who may be at risk of developing HCM [6].

These tests are often used in combination to diagnose HCM, as each test provides different information about the heart's structure and function.

References:

[1] NYU Langone doctors conduct a physical exam, imaging studies, and, sometimes, genetic tests to diagnose hypertrophic cardiomyopathy (HCM). Learn more. [Context 1] [2] 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 ... [Context 2] [3] Diagnostic Tests for Hypertrophic Cardiomyopathy · Diagnosis · Genetic testing · Echocardiogram · Electrocardiogram (ECG) · Exercise test · Magnetic resonance ... [Context 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 ... [Context 4] [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 ... [Context 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 ... [Context 6] [7] by DL Jacoby · 2013 · Cited by 60 — An electrocardiogram (ECG), echocardiogram and cardiac magnetic resonance imaging (MRI) from a patient with hypertrophic cardiomyopathy are shown in Appendix 1 ... [Context 7] [8] Diagnosing and treating hypertrophic cardiomyopathy often involves blood tests, imaging, and other tools. Our specialists use the latest technologies, many ... [Context 8] [9] by BJ Maron · 2022 · Cited by 331 — Echocardiography and CMR are synergistic for diagnosis in probands and family screening, and genetic testing can identify affected individuals ... [Context 9]

Treatment Options for Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a genetic condition that affects the heart muscle, causing it to become thickened and obstructed. While there is no cure for HCM, various treatment options are available to manage its symptoms and improve quality of life.

Medications

Several medications can help alleviate symptoms of HCM:

• Beta blockers: These medications slow down the heart rate and reduce the force of contraction, which can help decrease symptoms such as chest pain and shortness of breath. [1][2]
• Calcium channel blockers: These medications can also help reduce symptoms by relaxing the blood vessels and reducing the pressure on the heart. [3][4]
• Disopyramide: This medication is used to treat abnormal heart rhythms associated with HCM. [5]
• Mavacamten (Camzyos): A new investigational cardiac medication that has been approved for treating adults with symptomatic obstructive HCM. It works by reducing the strain on the heart, allowing it to function more efficiently. [6][7]

Other Treatment Options

In addition to medications, other treatment options are available:

• Surgery: Septal myectomy and alcohol septal ablation (ASA) are surgical procedures that can help relieve symptoms of obstructive HCM by removing or reducing the thickness of the heart muscle. [8]
• Heart transplantation: In severe cases where other treatments have failed, a heart transplant may be necessary to replace the diseased heart with a healthy one.

Management and Treatment

According to recent studies, there is currently only one disease-specific medication available for treating HCM: mavacamten (Camzyos). [9] Additionally, various medications are commonly prescribed to treat symptoms of HCM, including beta blockers, calcium channel blockers, and antiarrhythmics. [10]

It's essential to note that treatment plans should be tailored to individual patients based on their specific needs and medical history.

References:

[1] Result: | male | female | all non-cardioselective beta blockers | 59% | 40% | 52%

[2] Apr 2, 2022 — Medications such as beta-blockers, calcium channel blockers and antiarrhythmics are often prescribed to treat the symptoms of hypertrophic cardiomyopathy.

[3] Jul 25, 2022 — Treatment options for HCM and obstructive HCM include medication, surgery and—for some—heart transplantation.

[4] by C Palandri · 2022 · Cited by 39 — Guideline-directed therapy of HCM includes non-selective drugs such as disopyramide, non-dihydropyridine calcium channel blockers, or β-adrenergic receptor blockers.

[5] May 29, 2024 — Treatment and management of HCM. There is currently only one disease-specific medication to treat hypertrophic cardiomyopathy. Mavacamten is...

[6] Nov 9, 2020 — Mavacamten, a new investigational cardiac medication, may improve heart function for people with thickened heart muscle leading to obstructed blood flow.

[7] Apr 29, 2022 — FDA has approved Camzyos (mavacamten) capsules to treat adults with symptomatic New York Heart Association (NYHA)External Link Disclaimer...

[8] May 11, 2022 — Mavacamten is a brand new drug can treat heart patients with a genetic condition that thickens the heart muscle.

[9] by W Xu · 2024 — For drug-refractory obstructive HCM, septal myectomy and ASA are presently regarded as standard therapeutic techniques. However, septal myectomy...

[10] Result: | male | female | all non-cardioselective beta blockers | 59% | 40% | 52% platelet aggregation inhibitors | 55% | 41% | 50% salicylates | 52% | 38% | 47% angiotensin converting enzyme inhibitors | 45% | 35% | 42%

Differential Diagnosis of Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a genetic disorder that affects the heart muscle, causing it to become thickened and leading to various symptoms. However, there are several other conditions that can mimic HCM, making differential diagnosis crucial for accurate treatment.

Conditions to Consider in Differential Diagnosis

• Fabry disease: This rare genetic disorder can cause similar symptoms to HCM, including left ventricular hypertrophy (LVH) [2].
• Systemic hypertension: High blood pressure is a common cause of LVH and should be ruled out before diagnosing HCM [7].
• Aortic stenosis: A narrowing of the aortic valve can lead to similar symptoms as HCM, including LVH [6].
• Athlete's heart: Physically active individuals may develop LVH due to increased cardiac demand, which can be mistaken for HCM [9].
• Danon disease: This rare genetic disorder can cause similar symptoms to HCM, including LVH and left ventricular non-compaction [10].

Genetic Testing in Differential Diagnosis

Genetic testing can be particularly informative in differential diagnosis of HCM phenocopies (e.g., LAMP-2 [Danon], Fabry disease, other storage diseases) [8].

Key Points to Consider

• A correct diagnosis of HCM requires excluding other diagnoses first.
• Other conditions that can mimic HCM include Fabry disease, systemic hypertension, aortic stenosis, athlete's heart, and Danon disease.
• Genetic testing can be helpful in differential diagnosis of HCM phenocopies.

References:

[1] Aug 14, 2024 — Differential Diagnoses · Aortic Stenosis · Genetics of Fabry Disease · Hypertensive Heart Disease · Pediatric Supravalvar Aortic Stenosis. [2] by H Basit · 2023 · Cited by 24 — Differential Diagnosis. For a correct diagnosis of HCM to be made, other diagnoses must be excluded first, including the following: Fabry ... [3] Differential Diagnosis​​ For a correct diagnosis of HCM to be made, other diagnoses must be excluded first, including the following: Fabry disease: This disease ... [4] by MW Hansen · 2007 · Cited by 84 — The differential diagnosis of a thickened left ventricular apex on echocardiography includes apical HCM, mural thrombus, hypertrabeculation or noncompaction, ... [5] by C Méndez · 2018 · Cited by 17 — The differential diagnosis of apical HCM includes mural thrombus, hypertrabeculation or non-compaction and endomyocardial fibrosis. These ... [6] by MS Maron · Cited by 13 — ... DIAGNOSIS · DIFFERENTIAL DIAGNOSIS · Differential diagnosis of LVH · - Hypertension · - Aortic stenosis · - Athlete's heart · Criteria to ... [7] Feb 27, 2020 — Differential Diagnosis​​ Systemic hypertension and aortic stenosis are the most common causes of acquired left ventricular hypertrophy and should ... [8] by BJ Maron · 2022 · Cited by 331 — Genetic testing can be particularly informative in differential diagnosis of HCM phenocopies (eg, LAMP-2[Danon], Fabry disease, other storage ... [9] Jan 22, 2020 — Cardiomyopathy must be differentiated from athlete heart (which is often confused with HCM on echocardiography), hypertrophy due to hypertension ... [10] Aug 22, 2024 — Differential diagnosis · systemic hypertension. most common cause of concentric LV hypertrophy · athlete's heart · valvular aortic stenosis · Danon ...