Cardiomyopathy is a disease of the heart muscle that can affect the heart's ability to pump blood to the rest of the body. There are several types of cardiomyopathy, with many possible causes. Some types run in the family (inherited). People can have hereditary cardiomyopathy and not know it.
If cardiomyopathy runs in your family, you want a team of experts on your side. Experts at the Penn Center for Inherited Cardiovascular Disease can evaluate family members and create custom treatment plans.
Familial Cardiomyopathy: The Penn Medicine Advantage
Expert evaluation and early treatment can help prevent symptoms and complications of hereditary cardiomyopathy, including heart failure, arrhythmia and sudden cardiac death. When your family chooses the Penn Center for Inherited Cardiovascular Disease, you can count on:
- Experts in genetic heart disease: Our team of highly trained and experienced physicians, nurses and counselors specializes in genetics and cardiac disease. We take the time to help you understand the disease, what it means for you and your treatment options.
- Family-based model of care: We can help the entire family understand how the disease might affect them. Using pedigrees (family tree) and advanced DNA testing, we can screen your parents, siblings and children. We will help you talk to your family about their risk, then make arrangements to meet with them.
- Flexible, customized care: Some families are spread out across the country or the world. We design flexible plans to fit your family's preferences and needs. That may involve individual or group appointments, letters to inform people or telemedicine appointments.
- Pediatric partnership: We collaborate closely with pediatric cardiologists at Children's Hospital of Philadelphia (CHOP) to provide care for children affected by familial cardiomyopathy.
- Precise diagnosis: Treatment for familial cardiomyopathy depends on what's causing it and what symptoms you have. Penn has the most advanced diagnostic tools and DNA testing. We give you an accurate diagnosis that leads to the best possible treatment plan.
- A vast network of specialists: Successful treatment for hereditary cardiomyopathy may require multiple specialists. Penn has any type of cardiology expert you may need, including cardiac imaging, surgery, heart failure and heart transplantation. The Center for Inherited Cardiovascular Disease collaborates with other specialists and coordinates care to make it seamless for you.
- National reputation for excellence: Our center has been recognized as an HCM Center of Excellence by the Hypertrophic Cardiomyopathy Association. And our partners in heart failure treatment and cardiac surgery have been recognized by the American Heart Association.
What Is Familial Cardiomyopathy?
Familial cardiomyopathy is an inherited disease that affects the heart muscle. It can make it harder for the heart to pump oxygen-rich blood to the rest of the body. All of the cardiomyopathies can lead to arrhythmia, heart failure and sudden cardiac death. The main types of familial cardiomyopathy are:
- Arrhythmogenic cardiomyopathy (ACM): ACM is a condition in the myocardium, the heart's muscular wall. It involves a defect in proteins that connect heart muscle cells (myocytes). The defective heart muscle cells die and are replaced by scar tissue and fatty cells. This makes the ventricle walls stretched, thin and weak.
- Dilated cardiomyopathy: Dilated cardiomyopathy enlarges (dilates) the left ventricle, the main pumping chamber of the heart. As the chamber gets bigger, its thick muscular wall stretches, becoming thinner and weaker.
- Hypertrophic cardiomyopathy: In hypertrophic cardiomyopathy, the walls of the left ventricle become thick and stiff. This makes it more difficult for the chamber fill up with blood and empty.
- Non-compaction cardiomyopathy: In this condition, the walls of the left ventricle don't develop correctly. The muscle should be smooth and firm, but instead is spongy. In addition to heart failure and arrhythmias, non-compaction cardiomyopathy can lead to blood clots.
Treating Familial Cardiomyopathy at Penn
The first step to a successful treatment plan for familial cardiomyopathy is accurate diagnosis and testing. We have the advanced diagnostic tools and skill necessary to examine your heart and determine what's wrong. Once we understand the type of cardiomyopathy you have, we can develop a treatment plan.
At the Center for Inherited Cardiovascular Disease, our goals for treating familial cardiomyopathy include:
- Assessing the entire family's risk for the disease
- Controlling symptoms so that you can lead a full life
- Educating you about how to take certain precautions
- Monitoring you over time
- Preventing complications
Depending on the type of hereditary cardiomyopathy and how severe it is, your treatment may include:
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