Who is at risk for cardiomyopathy?

It's crucial to identify individuals at high risk of cardiomyopathy. Some individuals with cardiomyopathy never experience signs or symptoms, while others may not show symptoms in the early stages.

Early identification of high-risk individuals, even without symptoms, improves the chances of early diagnosis and more effective treatment.

What are the signs of cardiomyopathy?

Signs and symptoms of cardiomyopathy include:

• Shortness of breath or difficulty breathing, especially during physical exertion;
• Fatigue;
• Swelling in the ankles, feet, legs, abdomen, and neck veins;
• Dizziness;
• Lightheadedness;
• Fainting during physical activity;
• Arrhythmias (irregular heartbeats);
• Chest pain, especially after physical exertion or heavy meals;
• Heart murmurs (unusual sounds associated with the heartbeat);

Signs and symptoms of heart failure typically appear in the later stages of cardiomyopathy, when the heart weakens.

How is cardiomyopathy diagnosed?

Medical and family history

Your doctor will review your medical history and any symptoms you're experiencing. They'll also inquire about family history of cardiomyopathy, heart failure, or cardiac arrest.

Physical exam

Using a stethoscope, your doctor will listen to your heart and lungs for sounds indicative of cardiomyopathy. Certain sounds may suggest specific types of the disease.

For instance, the intensity, timing, and location of a heart murmur can suggest obstructive hypertrophic cardiomyopathy. Crackling sounds in the lungs may indicate heart failure.

Swelling in the ankles, feet, legs, abdomen, or neck veins, suggesting fluid buildup, is another sign of heart failure.

Diagnostic tests

Your doctor may recommend one or more of the following tests:

• Blood tests: A small blood sample is drawn, usually from an arm vein using a needle;
• Chest X-ray: A chest X-ray images the chest organs and structures, revealing potential heart enlargement or fluid buildup in the lungs;
• Electrocardiogram (ECG): The ECG records the heart's electrical activity, showing heart rate and rhythm regularity. It helps detect cardiomyopathy, heart attacks, arrhythmias, and heart failure;
• Echocardiography: Uses sound waves to create a moving image of the heart, showing its function, size, and shape;
• Exercise or stress test: This test stresses the heart (making it beat rapidly) while performing tests, potentially including nuclear cardiac scans, ultrasound, and positron emission tomography. It usually involves walking on a treadmill. If unable to exercise, medication may simulate exertion.

Diagnostic procedures

Diagnosis confirmation might involve one or more procedures, or preparation for surgery. These may include:

• Cardiac catheterization: Checks blood pressure and flow in heart chambers. A catheter is inserted into a blood vessel and guided to the heart to obtain blood samples and check for arterial blockages using X-ray imaging;
• Coronary angiography: Often performed during cardiac catheterization. A dye visible on X-ray is injected into coronary arteries to study blood flow in the heart and blood vessels;
• Myocardial biopsy: A heart muscle sample is removed (often during cardiac catheterization) and microscopically examined for cellular changes suggesting cardiomyopathy;
• Genetic testing: May be offered to identify cardiomyopathy signs in family members. This helps understand disease inheritance and risk assessment for children. It can also be helpful for diagnosing cardiomyopathy without present symptoms.

How can cardiomyopathy be prevented?

Hereditary cardiomyopathy is not preventable. However, you can reduce your risk of conditions contributing to or complicating cardiomyopathy, such as coronary artery disease, high blood pressure, and heart attacks.

Cardiomyopathy can be triggered by underlying diseases or conditions. Early treatment of these conditions can help prevent cardiomyopathy complications. For example, to manage high blood pressure, high cholesterol, and diabetes:

• Get regular checkups with your doctor;
• Follow your doctor's lifestyle recommendations;
• Take all medications as prescribed;
• Underlying conditions can lead to cardiomyopathy, and conversely, cardiomyopathy can lead to other complications;

For example, cardiomyopathy increases the risk of sudden cardiac arrest. An implantable cardioverter-defibrillator (ICD) can mitigate this risk.