Hypertrophic cardiomyopathy, HCM

Introduction

Hypertrophic cardiomyopathy (HCM) is a genetic heart condition in which the heart muscle becomes abnormally thickened, making it harder for the heart to pump blood effectively. HCM can affect people of all ages and is a leading cause of sudden cardiac arrest in young athletes. Early diagnosis, regular monitoring, and appropriate treatment are essential for managing symptoms and reducing the risk of complications.

Causes

HCM is most often caused by mutations in genes that control the growth and structure of heart muscle cells. These genetic changes are usually inherited in an autosomal dominant pattern, meaning a child has a 50% chance of inheriting the condition if one parent carries the gene mutation. Family history is a significant risk factor.

Symptoms

Symptoms of HCM can vary widely. Some people have no symptoms, while others may experience chest pain, shortness of breath, palpitations, dizziness, fainting (especially during exercise), or fatigue. In some cases, HCM can cause abnormal heart rhythms (arrhythmias) or lead to heart failure. Sudden cardiac arrest, though rare, can occur, particularly in young people and athletes.

Diagnosis

Diagnosis involves a combination of medical and family history, physical examination, and tests such as electrocardiogram (ECG), echocardiogram (ultrasound of the heart), and sometimes cardiac MRI. Genetic testing may be recommended for individuals with a family history of HCM. If you or a family member experience symptoms or have a family history of HCM, consult a doctor or cardiologist for evaluation.

Treatment Options

Treatment for HCM depends on the severity of symptoms and risk of complications. Medications such as beta-blockers or calcium channel blockers are often used to help the heart relax and reduce symptoms. In some cases, procedures such as septal ablation or surgery to remove part of the thickened heart muscle may be needed. An implantable cardioverter-defibrillator (ICD) may be recommended for those at high risk of sudden cardiac arrest.

Simple measures such as avoiding strenuous exercise, staying hydrated, and attending regular check-ups are important. Family members may also need screening. If symptoms worsen or new issues arise, consult a doctor promptly.

Prevention

HCM cannot be prevented, but early diagnosis, family screening, and appropriate management can reduce the risk of complications. Genetic counseling can help families understand their risk and make informed decisions.

Takeaway

Hypertrophic cardiomyopathy is a serious but manageable genetic heart condition. With early recognition, regular monitoring, and proper treatment, many people with HCM can lead active, healthy lives. If you have symptoms or a family history of HCM, consult a doctor or cardiologist for assessment and support.

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