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HCM
Hypertrophic Cardiomyopathy (HCM) is a genetic heart condition characterized by abnormal thickening (hypertrophy) of the heart muscle, particularly the walls of the left ventricle. This thickening can make it harder for the heart to pump blood effectively and can affect the heart’s electrical system, leading to arrhythmias (irregular heartbeats).
Key Features of HCM:
- Genetic Basis: HCM is often inherited in an autosomal dominant pattern, meaning a single copy of an altered gene in each cell is sufficient to cause the disorder. Mutations in several genes, most commonly those encoding proteins of the cardiac sarcomere (the contractile unit of muscle), are associated with HCM.
- Symptoms: Many individuals with HCM may be asymptomatic, while others might experience symptoms such as shortness of breath (dyspnea), chest pain (angina), palpitations, dizziness, fainting (syncope), or fatigue, particularly during physical exertion.
- Diagnosis: HCM is usually diagnosed using imaging techniques like echocardiography, which can visualize the thickened heart muscle and assess its function. Electrocardiograms (ECGs), MRI scans, and genetic testing may also be used for a more comprehensive evaluation.
- Potential Complications:
- Obstructive HCM: The thickened heart muscle can block or reduce the flow of blood out of the left ventricle (left ventricular outflow tract obstruction).
- Arrhythmias: People with HCM are at an increased risk of developing arrhythmias, which can sometimes lead to sudden cardiac arrest.
- Heart Failure: The heart’s ability to pump blood effectively may be compromised, leading to heart failure symptoms.
- Mitral Valve Problems: The thickened muscle may affect the mitral valve, leading to mitral valve regurgitation.
- Management and Treatment:
- Medications: Beta-blockers, calcium channel blockers, and anti-arrhythmic medications are often used to manage symptoms and control heart rhythm.
- Procedures and Surgery: In cases where medication is not effective, septal myectomy (surgical removal of part of the thickened septal wall), alcohol septal ablation, or implantable cardioverter-defibrillator (ICD) placement may be considered.
- Lifestyle Adjustments: Patients are often advised to avoid strenuous exercise and activities that can trigger symptoms or sudden cardiac events.
- Prognosis: The outlook for individuals with HCM varies widely, depending on the severity of the disease, the presence of symptoms, and any associated complications. With proper management and regular follow-up, many people with HCM lead normal lives.
If you have any specific questions about HCM or need more detailed information, feel free to ask!