hypertrophic cardiomyopathy 17

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, MYH7, and TNNT2 genes [1][2].
• Symptoms: The symptoms of HCM may include chest pain, shortness of breath, fainting spells, and palpitations [3].
• 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 [4].

Key Facts

• HCM is a genetic disease that affects the heart muscle cells, causing them to enlarge more than normal [5].
• It is the most common genetic cardiovascular disease, caused by mutations in genes such as MYBPC3 and MYH7 [6].
• HCM can lead to reduced pumping ability of the heart, which can be life-threatening if left untreated [7].

References

[1] Context result 2: "What is hypertrophic cardiomyopathy? Hypertrophic cardiomyopathy is most often caused by abnormal genes in..."

[2] Context result 7: "Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. This disorder is caused by a mutations in genes..."

[3] Context result 4: "...Sometimes, only one part of the heart is thicker than normal, which can cause symptoms such as chest pain and shortness of breath."

[4] Context result 3: "This type of hypertrophic cardiomyopathy may be called hypertrophic obstructive cardiomyopathy (HOCM). HCM also may cause thickening in other parts of your..."

[5] Context result 6: "...The heart muscle cells enlarge more than normal, which can lead to obstruction of blood flow and reduced pumping ability."

[6] Context result 7: "Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. This disorder is caused by a mutations in genes..."

[7] Context result 10: "...and so has reduced pumping ability"

Common Signs and Symptoms of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can manifest in various ways, affecting individuals differently. Some people may not experience any symptoms at all, while others may exhibit a range of signs that can vary widely even among family members.

• Arrhythmia: Irregular heart rate or rhythm is a common symptom of HCM.
• Chest pain: Chest pain, especially during physical activity, is another frequent sign. This pain can also occur with rest or after meals.
• Fatigue: Feeling tired or exhausted is a common complaint among individuals with HCM.
• Fluttering or pounding feeling in the chest: Some people may experience a fluttering or pounding sensation in their chest, which can be unsettling and uncomfortable.
• Heart murmur: A heart murmur, which is an abnormal sound heard when listening to the heartbeat, can also be a sign of HCM.

It's essential to note that some individuals with HCM may not exhibit any symptoms at all, or they might only experience them during periods of exertion. If you're concerned about your heart health or are experiencing any of these symptoms, consult a medical professional for proper evaluation and guidance.

References: * [3] - Some individuals don't experience symptoms, others may experience chest pain, shortness of breath or fainting, especially during periods of exertion. * [8] - Among people who do develop symptoms, the most common complaints include chest pain, shortness of breath with exertion, fatigue, palpitations, and dizziness. * [15] - The signs and symptoms of HCM can vary widely, even among members of the same family. Some people may have no symptoms at all, but others can experience arrhythmia, chest pain, fatigue, fluttering or pounding feeling in the chest, and heart murmur.

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 a non-invasive test that uses sound waves to create images of the heart. It can show thickening of the heart muscle, which is a characteristic feature of 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 [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 show thickening of the heart muscle and other abnormalities associated with HCM [3][8].
• Genetic testing: Genetic testing can be done from a blood sample to identify gene mutations that cause HCM. This is particularly useful for individuals with a family history of the condition [6][12].

These diagnostic tests are essential in confirming the diagnosis of HCM and ruling out other possible causes. A combination of these tests, along with a thorough medical history and physical examination, can help healthcare providers 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 ... [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 ... [5] An echocardiogram is the most common test used to diagnose hypertrophic cardiomyopathy, as this test will usually show the thickening of your heart walls. Other ... [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 ... [8] 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 ...

Treatment Options for Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes thickened, leading to obstruction of blood flow. While there are various treatment options available, drug therapy plays a crucial role in managing symptoms and improving quality of life.

Medications Used to Treat HCM

Several medications have been prescribed to treat HCM, including:

• Beta blockers: These medications slow the heart rate and reduce the force of contraction, thereby decreasing the obstruction caused by thickened heart muscle. [1][2]
• Calcium channel blockers: These drugs help relax blood vessels and improve blood flow, reducing symptoms such as chest pain and shortness of breath. [3][4]
• Disopyramide: This medication is used to treat abnormal heart rhythms associated with HCM. [5]
• Mavacamten (Camzyos): A relatively new investigational cardiac medication that has been approved by the FDA to treat adults with symptomatic obstructive HCM. It works by reducing the strain on the heart, allowing for improved blood flow and reduced symptoms. [6][7]

Other Treatment Options

In addition to drug therapy, other treatment options for HCM include:

• Surgery: Septal myectomy and alcohol septal ablation are surgical procedures that can help relieve obstruction caused by thickened heart muscle.
• Heart transplantation: In severe cases of HCM, a heart transplant may be necessary. [8]

References

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The differential diagnosis for hypertrophic cardiomyopathy (HCM) involves ruling out other conditions that can cause similar symptoms and physical findings. Some of the key considerations in the differential diagnosis of HCM include:

• Systemic hypertension: This is a common cause of acquired left ventricular hypertrophy, which can mimic the thickened left ventricle seen in HCM.
• Aortic stenosis: Another condition that can cause left ventricular hypertrophy and potentially lead to similar symptoms as HCM.
• Physiologic remodeling due to fitness: Athletes may develop a thickened left ventricle due to intense physical training, which can be mistaken for HCM.
• Increased left ventricular wall thickness due to acquired disorders: Conditions such as Fabry disease, other storage diseases, and cardiac amyloidosis can cause similar symptoms and findings as HCM.
• Hypovolemia: Low blood volume can lead to decreased cardiac output and potentially mimic the symptoms of HCM.
• Distributive shock: A condition characterized by a sudden drop in blood pressure, which can be mistaken for HCM.
• Myocardial ischemia of the left anterior descending artery (LAD) territory: This can cause thickening of the left ventricle and potentially lead to similar symptoms as HCM.

It's essential to consider these differential diagnoses when evaluating