hypertrophic cardiomyopathy 1

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 or MYH7 genes [1].
• Symptoms: The symptoms of HCM may include chest pain, shortness of breath, fainting spells, and palpitations [2].
• Types: There are different types of HCM, including hypertrophic obstructive cardiomyopathy (HOCM), which is a type of HCM that causes thickening in other parts of the heart besides the left ventricle [3].

Key Facts

• HCM is a genetic disease that affects the heart muscle cells, causing them to enlarge more than normal [4].
• It is the most common genetic cardiovascular disease, caused by mutations in genes such as MYBPC3 or MYH7 [5].
• HCM can lead to reduced pumping ability of the heart and may cause thickening in other parts of the heart besides the left ventricle [6].

References

[1] - Context result 2 [2] - Context result 9 [3] - Context result 3 [4] - Context result 6 [5] - Context result 7 [6] - Context result 10

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: Chest pain is a frequent symptom of HCM, often occurring during physical exertion or stress [2]. It can be described as a squeezing, pressure, or tightness in the chest area.
• Shortness of Breath: Shortness of breath, especially with physical exertion, is another common symptom of HCM [3]. This occurs due to the thickened heart muscle impeding blood flow and oxygenation to the body.
• Fatigue: Fatigue is a frequent complaint among individuals with HCM, particularly during or after physical activity [4].
• Dizziness and Fainting: Dizziness and fainting spells can occur in some cases, especially during exercise or physical exertion [5]. This is due to reduced blood flow to the brain.
• Irregular Heartbeat (Arrhythmia): An irregular heartbeat or palpitations are also symptoms of HCM [6].
• Irregular Sound: Some individuals may experience an irregular sound or murmur in their heart, which can be detected by a doctor during a physical examination [7].

It's essential to note that not everyone with HCM will exhibit all these symptoms. In some cases, the condition may remain asymptomatic for years.

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 · Shortness of breath, especially with exercise [5] May 8, 2024 — Symptoms · Fainting, especially during exercise · Fatigue [6] Symptoms and Signs of Hypertrophic Cardiomyopathy · palpitations, and · syncope. [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 ...

Diagnostic Tests for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be diagnosed through various tests, which help identify the condition and assess its severity. Here are some of the key diagnostic tests used to diagnose HCM:

• Echocardiogram: An echocardiogram is a non-invasive test that uses sound waves to create images of the heart's structure and function. It can help measure the thickness of the heart muscle, blood flow, and other parameters to diagnose HCM [4][5].
• Electrocardiogram (ECG): An ECG measures the electrical activity of the heart and can detect abnormal rhythms or patterns that may indicate HCM [3][5].
• Genetic Testing: Genetic testing can be done from a blood sample to identify genetic mutations associated with HCM. This test can provide information about prognosis and family risk [6].
• Magnetic Resonance Imaging (MRI): MRI is a non-invasive imaging test that uses magnetic fields and radio waves to create detailed images of the heart's structure and function. It may be used in combination with echocardiography or as an alternative diagnostic tool [2][9].

These tests can help diagnose HCM, assess its severity, and guide treatment decisions.

References: [1] NYU Langone doctors diagnose hypertrophic cardiomyopathy (HCM) through physical exam, imaging studies, and genetic testing. [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 ... [3] Diagnosis of hypertrophic cardiomyopathy (HCM) includes genetic testing, echocardiogram, electrocardiogram (ECG), exercise test, and magnetic resonance imaging (MRI). [4] May 29, 2024 — HCM diagnosis is typically done by echocardiogram, which checks the function and thickness of the heart muscle and blood flow. [5] Hypertrophic cardiomyopathy can be diagnosed through an electrocardiogram (ECG) and echocardiogram (echo). [6] Genetic testing can be done from a blood sample to diagnose hypertrophic cardiomyopathy (HCM), providing information about prognosis and family risk. [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 ... [8] Diagnosing and treating hypertrophic cardiomyopathy often involves blood tests, imaging, and other tools. [9] by BJ Maron · 2022 · Cited by 333 — These advances underscore the importance of reliable HCM diagnosis with echocardiography and cardiac magnetic resonance.

Current Drug Treatments for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition that affects the thickening of the heart muscle, making it harder for the heart to pump blood. While there is no specific cure for HCM, various medications can help manage symptoms and improve quality of life.

Commonly Prescribed Medications

According to recent studies [5], commonly prescribed medications for HCM include:

• Beta blockers: These medications slow down the heart rate and reduce the force of contraction, which can help alleviate symptoms.
• Disopyramide: This medication is used to treat abnormal heart rhythms associated with HCM.
• Calcium channel blockers: These medications can help relax blood vessels and improve blood flow through the heart.
• Heart rhythm medications: These medications are used to regulate abnormal heart rhythms.
• Anticoagulants: These medications are used to prevent blood clots from forming in the heart.

New Investigational Medications

Recently, a new investigational cardiac medication called mavacamten has been shown to improve heart function for people with thickened heart muscle leading to obstructed blood flow through the heart [6]. This medication has been approved by the FDA for use in adults with symptomatic New York Heart Association (NYHA) class II-III obstructive hypertrophic cardiomyopathy.

Other Treatment Options

In some cases, patients may require more invasive procedures such as heart surgery or catheter-based procedures to treat HCM [11]. Additionally, a healthy lifestyle and regular exercise can play a major role in managing the condition [14].

References:

[5] Commonly prescribed medications for HCM include beta blockers, disopyramide, calcium channel blockers, heart rhythm medications, and anticoagulants. [6] Mavacamten, a new investigational cardiac medication, may improve heart function for people with thickened heart muscle leading to obstructed blood flow through the heart. [11] If the obstruction is more significant and not amenable to treatment with medications, patients may need heart surgery or a catheter-based procedure.

Differential Diagnosis of Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a genetically determined heart condition characterized by thickening of the heart muscle, which can lead to obstruction of blood flow and potentially life-threatening complications. To establish an accurate diagnosis of HCM, it's essential to exclude other conditions that may present with similar symptoms.

Conditions to be Ruled Out:

• Fabry disease: This genetic disorder affects the production of enzymes, leading to thickening of the heart muscle, among other symptoms [2][3].
• Systemic hypertension: High blood pressure can cause concentric left ventricular hypertrophy, which may mimic HCM [7][10].
• Aortic stenosis: A narrowing of the aortic valve can lead to similar symptoms as HCM, including obstruction of blood flow [1][6].
• Mural thrombus, hypertrabeculation or non-compaction, and endomyocardial fibrosis are other conditions that may be considered in the differential diagnosis of apical HCM [5].

Genetic Testing:

In some cases, genetic testing can be informative in differentiating HCM from phenocopies (conditions that mimic HCM), such as LAMP-2 (Danon disease) or Fabry disease [8].

Athlete's Heart:

It's also essential to differentiate HCM from athlete's heart, which is a condition characterized by thickening of the heart muscle in response to intense physical training. This can be challenging, especially on echocardiography [9].

In summary, a comprehensive differential diagnosis for hypertrophic cardiomyopathy involves considering various conditions that may present with similar symptoms, including Fabry disease, systemic hypertension, aortic stenosis, and others.

References: [1] Aug 14, 2024 — Differential Diagnoses · Aortic Stenosis [2] by H Basit · 2023 · Cited by 24 — Differential Diagnosis [3] by H Basit · 2023 · Cited by 24 — Differential Diagnosis​​ [5] by C Méndez · 2018 · Cited by 17 — The differential diagnosis of apical HCM includes mural thrombus, hypertrabeculation or non-compaction and endomyocardial fibrosis. [6] by MS Maron · Cited by 13 — ... DIAGNOSIS · DIFFERENTIAL DIAGNOSIS ... [7] Feb 27, 2020 — Differential Diagnosis​​ [8] by BJ Maron · 2022 · Cited by 332 — 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