hypertrophic cardiomyopathy 13

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 the most common genetic cardiovascular disease [5].
• It is characterized by left ventricular hypertrophy unexplained by secondary causes [6].
• The heart muscle cells enlarge more than normal, leading to obstruction of blood flow and reduced pumping ability [7].

References

[1] Feb 23, 2024 — Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes thickened, also called hypertrophied. [2] May 29, 2024 — Hypertrophic Cardiomyopathy (HCM) · What is hypertrophic cardiomyopathy? [3] This type of hypertrophic cardiomyopathy may be called hypertrophic obstructive cardiomyopathy (HOCM). [4] May 8, 2024 — Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes thick. [5] Aug 14, 2024 — Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. [6] by AJ Marian · 2017 · Cited by 1336 — Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricular hypertrophy unexplained by secondary causes. [7] 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 lead to obstruction of blood flow.

Common Signs and Symptoms of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can manifest in various ways, affecting individuals differently. Some common signs and symptoms include:

• Shortness of breath or trouble breathing: This can occur with activity or even at rest, making it difficult to perform daily tasks.
• Chest pain: Especially after physical activity or heavy meals, chest pain is a frequent complaint among HCM patients.
• Rapid heartbeat (palpitations): Heartbeats that feel rapid, pounding, or fluttering can be a symptom of HCM.
• Heart murmurs: Abnormal sounds heard when listening to the heart with a stethoscope.

These symptoms can vary in severity and may not always be present. In some cases, people with HCM might not experience any noticeable signs or symptoms at all. If you're experiencing any of these symptoms, it's essential to consult a healthcare professional for proper evaluation and diagnosis. [13][14]

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. An echocardiogram uses sound waves to create images of the heart, showing the thickening of the heart walls [5].
• Electrocardiogram (ECG): An ECG measures the electrical activity of the heart and 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 to identify genetic mutations that cause HCM. This test is essential for family screening and identifying affected individuals [8].
• Exercise test: An exercise test, also known as a stress test, measures the heart's response to physical activity. It can help diagnose HCM by showing signs of abnormal heart function during exercise.
• Magnetic resonance imaging (MRI): MRI is another imaging test that can be used to diagnose HCM. It provides detailed images of the heart and its blood vessels.

These diagnostic tests are essential in confirming a diagnosis of hypertrophic cardiomyopathy and ruling out other possible causes. A combination of these tests, along with a physical exam and medical history, can help doctors make an accurate diagnosis [4].

References: [4] - May 29, 2024 — HCM is diagnosed based on your medical history, family history, a physical exam and diagnostic test results. [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 ... [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 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 the 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 [2] Context 4 [3] Context 7 [4] Context 5 [5] Context 3 [6] Context 6 [7] Context 9 [8] Context 10

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 Consider:

• Fabry disease: A genetic disorder that affects the kidneys, heart, and nervous system, leading to thickening of the left ventricle.
• Hypertensive heart disease: Thickening of the left ventricle due to high blood pressure.
• Mural thrombus: A blood clot in the left ventricle that can cause thickening.
• Hypertrabeculation or non-compaction: A rare condition characterized by deep grooves and a spongy appearance of the heart muscle.
• Endomyocardial fibrosis: Scarring of the inner lining of the heart.

Other Considerations:

• Athlete's heart: Thickening of the left ventricle due to intense physical training, which can be mistaken for HCM on echocardiography.
• Systemic hypertension: High blood pressure that can cause concentric LV hypertrophy.
• Valvular aortic stenosis: Narrowing of the aortic valve that can lead to thickening of the left ventricle.

Genetic Testing:

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

References:

[1] by MS Maron · Cited by 13 — ... DIAGNOSIS · DIFFERENTIAL DIAGNOSIS ... Hypertrophic cardiomyopathy (HCM) is a genetically determined heart ... (See "Hypertrophic cardiomyopathy ...

[2] 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 ...

[3] by MS Maron · Cited by 13 — ... DIAGNOSIS · DIFFERENTIAL DIAGNOSIS ... Hypertrophic cardiomyopathy (HCM) is a genetically determined heart ... (See "Hypertrophic cardiomyopathy ...

[4] 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 ...

[5] by MS Maron · Cited by 13 — ... DIAGNOSIS · DIFFERENTIAL DIAGNOSIS ... Hypertrophic cardiomyopathy (HCM) is a genetically determined heart ... (See "Hypertrophic cardiomyopathy ...

[6] 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 ...

[7] by MS Maron · Cited by 13 — ... DIAGNOSIS · DIFFERENTIAL DIAGNOSIS ... Hypertrophic cardiomyopathy (HCM) is a genetically determined heart ... (See "Hypertrophic cardiomyopathy ...

[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 ...