hypertrophic cardiomyopathy 15

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 out of the heart and can cause symptoms such as chest pain, shortness of breath, and fainting.

Causes and Characteristics

• HCM is most often caused by abnormal genes in the sarcomere protein genes encoding for cardiac myocytes [5].
• The heart muscle cells enlarge more than normal, leading to thickening of the heart walls [7].
• This type of hypertrophic cardiomyopathy may be called hypertrophic obstructive cardiomyopathy (HOCM) [3].

Prevalence and Impact

• HCM is the most common genetic cardiovascular disease [8].
• It affects approximately 1 in 500 people, making it a relatively rare condition [9].
• However, due to its potential severity, it is essential for individuals with a family history of HCM or those who experience symptoms to seek medical attention.

References

[1] - Search result 1 [3] - Search result 3 [5] - Search result 5 [7] - Search result 7 [8] - Search result 8 [9] - Search result 9

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 some 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].
• Shortness of breath: People with HCM may experience shortness of breath, especially when engaging in physical activity or exercise [1][4].
• Fatigue: Fatigue is another common symptom of HCM, which can be attributed to the heart's inability to pump blood efficiently [5][6].
• Dizziness and fainting spells: Some individuals with HCM may experience dizziness or fainting spells, particularly during physical exertion or stress [1][7].
• Irregular heartbeat (arrhythmia): An irregular heartbeat can be a symptom of HCM, which can increase the risk of heart-related complications [4].

It's essential to note that not everyone with HCM will experience all of these symptoms. In some cases, people may not exhibit any noticeable signs or symptoms at all.

References: [1] - Context result 2 [2] - Context result 7 [3] - Context result 7 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 5

Diagnostic Tests for Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be diagnosed using various tests, including:

• Echocardiogram: An echocardiogram is the most common test used to diagnose HCM. It uses sound waves to create images of the beating heart and can show thickening of the heart walls [5].
• Electrocardiography (ECG): An ECG can also be used to diagnose HCM, as it can show left ventricular hypertrophy [7].
• Imaging studies: Other imaging studies, such as cardiac MRI or CT scans, may also be used to confirm the diagnosis of HCM.
• Genetic testing: Genetic testing can be done from a blood sample and is important for patients with a family history of HCM. It can help identify gene mutations that cause the condition [6].
• Blood tests: Blood tests may also be used to diagnose HCM, as they can show abnormal levels of certain enzymes or proteins in the blood.

It's worth noting that a diagnosis of HCM is typically made based on a combination of these tests, as well as a physical exam and medical history. A healthcare professional will use this information to determine the best course of action for diagnosis and treatment.

References:

[5] - An echocardiogram often is used to diagnose hypertrophic cardiomyopathy. Sound waves are used to create images of the beating heart. [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 members may also have the condition. [7] - Clues to the possible diagnosis of hypertrophic cardiomyopathy include the presence of left ventricular hypertrophy on electrocardiography or echocardiogram in a patient with a suggestive family history.

Medications for Hypertrophic Cardiomyopathy (HCM)

According to various sources, medications play a crucial role in the treatment of HCM. The primary goal of drug therapy is to alleviate symptoms and prevent complications.

• Beta blockers: These are commonly prescribed medications that can help reduce the heart rate and slow down the heart's contractions, thereby easing symptoms.
  • Cited by [5] as one of the commonly prescribed medications for HCM.
  • According to [10], beta blockers are used in 59% of male patients, 40% of female patients, and 52% of all non-cardioselective patients.
• Calcium channel blockers: These medications can help relax the heart muscle and improve blood flow.
  • Cited by [4] as a non-selective drug for HCM treatment.
  • According to [10], calcium channel blockers are used in 55% of male patients, 41% of female patients, and 50% of all non-cardioselective patients.
• Disopyramide: This medication can help slow down the heart rate and reduce symptoms.
  • Cited by [4] as a non-selective drug for HCM treatment.
• Mavacamten: A new investigational cardiac medication that has been approved by the FDA to treat adults with symptomatic NYHA class II-IV heart failure due to obstructive HCM.
  • According to [3], mavacamten reduces the obstruction in the heart caused by HCM.
  • Cited by [7] as a treatment option for obstructive HCM.

These medications can be used alone or in combination with other treatments, such as surgery or catheterization, depending on the severity of symptoms and individual patient needs.

Differential Diagnosis of Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a genetically determined heart condition that can be challenging to diagnose due to its similarities with other cardiac conditions. The differential diagnosis of HCM involves excluding other possible causes of thickened left ventricular walls and symptoms.

Conditions to Exclude:

• Fabry disease: A genetic disorder that affects the kidneys, heart, and blood vessels, leading to thickening of the left ventricle [2][3].
• Mural thrombus: A blood clot in the left ventricle that can cause similar symptoms to HCM [4][5].
• Hypertrabeculation or non-compaction: A rare condition characterized by excessive trabeculations and thinning of the left ventricular walls, which can mimic HCM [4][5].
• Endomyocardial fibrosis: A rare condition that causes scarring and thickening of the endocardium, leading to symptoms similar to HCM [5].
• Systemic hypertension: High blood pressure can cause concentric left ventricular hypertrophy, which may be mistaken for HCM [7][10].
• Aortic stenosis: A narrowing of the aortic valve that can cause thickening of the left ventricle and symptoms similar to HCM [6][7][10].

Genetic Testing:

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

References:

[1] Not provided [2] by H Basit · 2023 · Cited by 24 — [3] by H Basit · 2023 · Cited by 24 — [4] by MW Hansen · 2007 · Cited by 84 — [5] by C Méndez · 2018 · Cited by 17 — [6] by MS Maron · Cited by 13 — [7] Feb 27, 2020 — [8] by BJ Maron · 2022 · Cited by 332 — [9] Jan 22, 2020 — [10] Aug 22, 2024 —