More than five million Americans have heart failure, and 500,000 more cases are diagnosed each year. The condition develops gradually, due to injury to or weakness of the heart—underlying causes include heart attack, high blood pressure, coronary artery disease, heart valve disease, abnormal heart rhythms, diseases of the heart muscle
Cardiomyopathies are a group of diseases that primarily affect the heart muscle. The main types of cardiomyopathy include hypertrophic, restrictive and dilated cardiomyopathy.
Dilated cardiomyopathy, a condition in which the heart becomes enlarged and cannot pump blood efficiently, is the most common type. The decreased heart function can affect the lungs, liver, and other body systems., Cardiomyopathy makes it harder for your heart to pump and deliver blood to the rest of your body, and can lead to heart failure.
The current American Heart Association definition divides cardiomyopathies into primary, which affect the heart alone, and secondary, which are the result of illness affecting other parts of the body. These categories are further broken down into subgroups that incorporate new genetic and molecular biology knowledge.
Cardiomyopathies can be classified using different criteria:
• Primary/intrinsic (genetic, acquired)
• Secondary/extrinsic (endomyocardial, endocrine, cardiofacial, neuromuscular and other, such as obesity-associated cardiomyopathy)
Symptoms may include shortness of breath after physical exertion, fatigue, and swelling of the feet, legs, or abdomen. Additionally, arrhythmias and chest painmay be present.
These diseases are diagnosed using a variety of measures, including physical exams, review of family history, blood tests, EKGs, echocardiograms, stress tests and genetic testing.
Treatment may include suggestion of lifestyle changes to better manage the condition. Treatment depends on the type of cardiomyopathy and condition of disease, but may include medication (conservative treatment) or iatrogenic/implanted pacemakers for slow heart rates, defibrillators for those prone to fatal heart rhythms, ventricular assist devices (VADs) for severe heart failure, or ablation for recurring dysrhythmias that cannot be eliminated by medication or mechanical cardioversion. The goal of treatment is often symptom relief, and some patients may eventually require a heart transplant.
Q: I’ve seen ads for mail-order test kits that provide genetic testing for cardiovascular disease. Is there any benefit to having this type of testing?
A: Some types of cardiovascular conditions can be inherited, some of which may be due to multiple genes, making genetic testing quite complicated or impossible. Other
Ask the Doctors: Genetic testing
Q. I read about genetic testing in all fields of medicine. But I don’t fully understand the concept. I was hoping you could explain how genetic testing relates to heart disease.
A. You are correct that genetic testing has become more widely used in recent years, but