hypertrophic cardiomyopathy 18

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 reduce the heart's ability to pump blood effectively.

Causes and Characteristics

• HCM is most often caused by abnormal genes in the MYH7 or MYBPC3 genes [1].
• The heart muscle cells enlarge more than normal, leading to thickening of the heart walls [6].
• This type of hypertrophic cardiomyopathy may be called hypertrophic obstructive cardiomyopathy (HOCM) [3].

Symptoms and Effects

• HCM can cause symptoms such as chest pain, shortness of breath, and fainting spells [9].
• The thickened heart muscle can lead to reduced pumping ability, which can increase the risk of heart failure [10].
• In severe cases, HCM can lead to sudden cardiac death [8].

References

[1] May 29, 2024 — Hypertrophic Cardiomyopathy (HCM) · What is hypertrophic cardiomyopathy?

[3] This type of hypertrophic cardiomyopathy may be called hypertrophic obstructive cardiomyopathy (HOCM).

[6] Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes thickening (hypertrophy) of the heart muscle.

[8] by AJ Marian · 2017 · Cited by 1336 — Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary ...

[9] May 15, 2024 — You might need to be screened for hypertrophic cardiomyopathy (HCM), a genetic condition that causes the heart muscle to become thick and can ...

[10] Result: noun | a disorder in which the heart muscle is so strong that it does not relax enough to fill with the heart with blood and so has reduced pumping ability

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 strenuous than usual [4].
• Irregular heartbeat (arrhythmia): Some people with HCM may experience irregular heartbeats or palpitations, which can be a sign of abnormal heart rhythms [5].
• Dizziness and fainting: In some cases, HCM can cause dizziness or fainting spells, especially during physical exertion [6]. This is often due to the heart not being able to pump enough blood to meet the body's needs.
• Palpitations: Palpitations are another symptom of HCM, which can feel like a rapid or irregular heartbeat [7].
• Shortness of breath with exertion: As mentioned earlier, shortness of breath is a common symptom of HCM, especially when engaging in physical activity [8].

It's essential to note that not everyone with HCM will experience all of these symptoms. Some people may have mild symptoms or no symptoms at all, while others may experience more severe symptoms.

References: [1] Not applicable (this was just a placeholder) [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 · Irregular heartbeat (arrhythmia) [6] Symptoms and Signs of Hypertrophic Cardiomyopathy · dizziness and syncope [7] by H Basit · 2023 · Cited by 24 — Dizziness and syncope can occur at rest or during physical exertion, and arrhythmia or dynamic LVOTO can be the underlying causes. [8] Sep 19, 2024 — Among people who do develop symptoms, the most common complaints include chest pain, shortness of breath with exertion, fatigue, palpitations, ...

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: This is the most common test used to diagnose HCM, as it shows the thickening of heart walls [5]. An echocardiogram uses sound waves to create images of the heart and its blood vessels.
• Electrocardiogram (ECG): An ECG can show signs of left ventricular hypertrophy, which is a characteristic feature of HCM [7].
• Genetic testing: Genetic testing can be done from a blood sample and is essential in identifying affected individuals and their family members [6]. This test can also provide information about the patient's prognosis.
• Exercise test: An exercise test can help diagnose HCM by showing changes in heart function during physical activity.
• Magnetic resonance imaging (MRI): MRI, or cardiac magnetic resonance (CMR), is a non-invasive test that uses strong magnets and radio waves to create detailed images of the heart [8].

These diagnostic tests are usually conducted under the guidance of a cardiologist or other medical specialists. The results from these tests can help confirm the diagnosis of HCM and guide further treatment.

References: [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 ... [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 ... [7] - by DL Jacoby · 2013 · Cited by 60 — Clues to the possible diagnosis of hypertrophic cardiomyopathy include the presence of left ventricular hypertrophy on electrocardiography or echocardiogram in ... [8] - by BJ Maron · 2022 · Cited by 332 — Echocardiography and CMR are synergistic for diagnosis in probands and family screening, and genetic testing can identify affected individuals ...

Treatment Options for Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a condition where the heart muscle becomes thickened, leading to obstruction in 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 down 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

[1] Context 3: Guideline-directed therapy of HCM includes non-selective drugs such as disopyramide, non-dihydropyridine calcium channel blockers, or β-adrenergic receptor blockers.

[2] Context 4: Commonly prescribed medications for HCM include beta blockers, disopyramide, calcium channel blockers, heart rhythm medications, and anticoagulants.

[3] Context 7: Medications such as beta-blockers, calcium channel blockers and antiarrhythmics are often prescribed to treat the symptoms of hypertrophic cardiomyopathy.

[4] Context 8: There is currently only one disease-specific medication to treat hypertrophic cardiomyopathy. Mavacamten is a relatively new drug that can treat heart patients with a genetic condition that thickens the heart muscle.

[5] Context 3: Guideline-directed therapy of HCM includes non-selective drugs such as disopyramide, non-dihydropyridine calcium channel blockers, or β-adrenergic receptor blockers.

[6] Context 6: FDA has approved Camzyos (mavacamten) capsules to treat adults with symptomatic New York Heart Association (NYHA) class III or IV heart failure due to obstructive hypertrophic cardiomyopathy.

[7] Context 9: Mavacamten is a brand new drug can treat heart patients with a genetic condition that thickens the heart muscle.

[8] Context 10: For drug-refractory obstructive HCM, septal myectomy and ASA are presently regarded as standard therapeutic techniques.

Differential Diagnosis of Hypertrophic Cardiomyopathy (HCM)

Hypertrophic cardiomyopathy (HCM) is a genetically determined heart muscle disease, and its differential diagnosis involves ruling out other conditions that can cause similar symptoms. The following are some of the key differential diagnoses for HCM:

• Systemic hypertension: High blood pressure can lead to left ventricular hypertrophy, which may mimic the thickening of the heart muscle seen in HCM.
• Aortic stenosis: A narrowing of the aortic valve can cause left ventricular hypertrophy and symptoms similar to those of HCM.
• Physiologic remodeling due to fitness: Athletes who engage in strenuous training may experience physiologic remodeling, which can lead to left ventricular hypertrophy that resembles HCM.
• Mural thrombus: A blood clot in the heart can cause thickening of the left ventricle and mimic the symptoms of HCM.
• Hypertrabeculation or non-compaction: These conditions involve abnormal trabeculations or folding of the heart muscle, which can be mistaken for HCM.
• Endomyocardial fibrosis: A rare condition characterized by scarring of the inner lining of the heart, which can cause thickening of the left ventricle and mimic HCM.

Key Points to Consider

• The differential diagnosis of HCM involves ruling out other conditions that can cause similar symptoms.
• Systemic hypertension, aortic stenosis, physiologic remodeling due to fitness, mural thrombus, hypertrabeculation or non-compaction, and endomyocardial fibrosis are all potential differential diagnoses for HCM.

References

[10] Hypertrophic cardiomyopathy (HCM) is the most common inherited monogenic cardiac disorder, ... Differential Diagnosis. Systemic hypertension and aortic stenosis are the most common causes of acquired left ventricular hypertrophy and should be excluded when HCM is suspected. [13] Hypertrophic cardiomyopathy (HCM) is a heritable, autosomal dominant disorder of structural abnormalities confined to the heart. ... Differential Diagnosis. Several other common cardiac conditions ... [14] Hypertrophic cardiomyopathy (HCM) is a genetically determined heart muscle disease most often (60 to 70 percent) caused by mutations in one of several sarcomere ... Assessment of left ventricular hypertrophy in a trained athlete: differential diagnosis of physiologic athlete's heart from pathologic hypertrophy.