hypertrophic cardiomyopathy 25

Hypertrophic Cardiomyopathy (HCM) Description

Hypertrophic cardiomyopathy (HCM) is a condition in which the heart muscle becomes thickened, leading to various complications. This thickening can occur in one or both ventricles of the heart and can be caused by abnormal genes.

Causes and Characteristics:

• HCM is most often caused by inherited genetic mutations [1].
• The heart muscle cells enlarge more than normal, causing the heart wall to become thicker [6].
• This thickening can lead to obstruction of blood flow out of the heart, reducing its pumping ability [10].

Symptoms and Complications:

• HCM can cause symptoms such as chest pain, shortness of breath, and fainting spells [9].
• In severe cases, it can lead to sudden cardiac death [8].

References:

[1] - May 29, 2024 — Hypertrophic Cardiomyopathy (HCM) · What is hypertrophic cardiomyopathy? [6] - Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes thickening (hypertrophy) of the heart muscle. [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

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: This is one of the most common symptoms of HCM, often described as a squeezing or pressure sensation in the chest [2].
• Shortness of breath: People with HCM may experience shortness of breath, especially during physical exertion [3]. This can be due to the thickened heart muscle impeding blood flow.
• Fatigue: Fatigue is another common symptom of HCM, which can be attributed to the heart's inability to pump enough blood efficiently [4].
• Dizziness and fainting spells: Some individuals with HCM may experience dizziness or fainting spells, particularly during physical activity [5].
• Irregular heartbeat (arrhythmia): An irregular heartbeat is a common symptom of HCM, which can be caused by the thickened heart muscle disrupting normal heart rhythms [6].
• Palpitations: Palpitations, or an abnormal sensation in the chest, are also associated with HCM [7].

It's essential to note that not everyone with HCM will experience all of these symptoms. In some cases, people may be asymptomatic, while others may have more severe symptoms.

References: [1] Not provided (initial query) [2] 2. May 29, 2024 — Signs, symptoms and risks · Chest pain, especially with physical exertion [3] 3. Difficulty breathing (shortness of breath) and fatigue, especially with exertion. [4] 4. What Is Hypertrophic Cardiomyopathy? · Fatigue [5] 5. May 8, 2024 — Symptoms · Fainting, especially during exercise [6] 6. Symptoms and Signs of Hypertrophic Cardiomyopathy · palpitations [7] 7. by H Basit · 2023 · Cited by 24 — 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 important for identifying affected individuals in families with a history of HCM [6]. This test can also provide information on the prognosis of patients.
• Exercise test: An exercise test, such as a stress echocardiogram or cardiac MRI, can help diagnose HCM by showing changes in heart function during physical activity.
• Magnetic resonance imaging (MRI): Cardiac MRI is another diagnostic tool used to visualize the heart and its blood vessels. It can show signs of hypertrophy and other abnormalities associated with HCM [8].

These tests are often used in combination to confirm a diagnosis of HCM. A thorough medical history, family history, physical exam, and diagnostic test results are also essential in diagnosing this condition [4].

Medications Used to Treat Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) can be treated with various medications, which aim to alleviate symptoms and prevent complications. The following are some of the commonly used drugs:

• Beta blockers: These medications slow down the heart rate and reduce the force of contraction, thereby decreasing the obstruction in the outflow tract. Examples include metoprolol and carvedilol [5].
• Calcium channel blockers: These drugs can help relax the heart muscle and improve blood flow. Verapamil is an example of a calcium channel blocker used to treat HCM [5].
• Disopyramide: This medication can help reduce the thickness of the heart muscle and improve symptoms such as shortness of breath and chest pain [4].
• Mavacamten: A newer medication that works by inhibiting the myosin protein, which helps to decrease the heart's contractility and improve symptoms [5].

It is essential to note that these medications may not be suitable for everyone with HCM, and treatment should be individualized based on the severity of symptoms and other factors. Additionally, lifestyle modifications such as regular exercise, a healthy diet, and stress management can also play a crucial role in managing HCM.

References:

[4] by C Palandri · 2022 · Cited by 39 — Guideline-directed therapy of HCM includes non-selective drugs such as disopyramide, non-dihydropyridine calcium channel blockers, or β-adrenergic receptor ...

[5] by MS Maron · Cited by 1 — Options include a beta blocker, verapamil, disopyramide, and the myosin inhibitor mavacamten. These medications work to decrease the heart's ...

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, which are a hallmark of the disease.

Conditions to Exclude:

• Fabry Disease: This genetic disorder affects the kidneys and heart, causing thickening of the left ventricle's walls. [2][3]
• Mural Thrombus: A blood clot in the left ventricle can cause similar echocardiographic findings as HCM. [4][5]
• Hypertrabeculation or Non-Compaction: This rare condition involves an abnormal thickening of the heart muscle, which can mimic HCM on imaging studies. [4][5]
• Endomyocardial Fibrosis: A rare condition characterized by scarring and thickening of the heart's inner lining, which can be mistaken for HCM. [5]
• Systemic Hypertension: High blood pressure can cause concentric left ventricular hypertrophy, similar to HCM. [7][10]
• Aortic Stenosis: This valve disorder can lead to thickening of the left ventricle's walls due to increased pressure on the heart muscle. [6][7][10]

Genetic Testing:

In some cases, genetic testing may be necessary to rule out other conditions that mimic HCM, such as Fabry disease or Danon disease. [8]