The Familial Cardiomyopathy Program
Some heart conditions are caused by genetic abnormalities passed down through families. When adults or children are diagnosed with these conditions, their family members should be evaluated by a doctor.
What is cardiomyopathy?
A cardiomyopathy is a disease where the heart muscle becomes enlarged or weakened, preventing it from working as well as it should. There are different types of cardiomyopathies. Two types that run in families are:
- Dilated cardiomyopathy, when the pumping chambers of the heart are abnormally large and weak, and
- Hypertrophic cardiomyopathy, when the pumping chambers of the heart become abnormally thick
A person may have these conditions for years without knowing it or having symptoms. If one person in a family is diagnosed, it may become important that a cardiologist evaluates other family members to assess their risk.
The CHOP - Penn connection
The Familial Cardiomyopathy program unites the breadth of resources from two premier institutions, The Children’s Hospital of Philadelphia (CHOP) and the University of Pennsylvania Health System (Penn). Our teams work together to ensure that the whole family receives the best care.
When a child is diagnosed with a cardiomyopathy at CHOP , the pediatric cardiologist may recommend that parents and, in some cases, other adult family members see an adult cardiologist at the Penn Heart and Vascular Center.
When an adult is diagnosed with a cardiomyopathy at Penn, the adult cardiologist may recommend that children in the family see a pediatric cardiologist at the Cardiac Center at CHOP.
Cardiomyopathy diagnosis
To help the cardiologist determine if a child or adult has a cardiomyopathy the first appointment will include:
- A detailed medical history
- A physical exam
- An electrocardiogram (ECG) - a record of the electrical activity of the heart
- An echocardiogram (also called "echo" or cardiac ultrasound) - sound waves create an image of the heart
The team
At both CHOP and Penn, the Familial Cardiomyopathy program will provide screening, evaluation and coordinated care from a multidisciplinary team of experts that will include:
- Pediatric and adult cardiologists
- Nurses
- Geneticist
- Genetic counselors
- Social workers
- Other team members with expertise in cardiomyopathies and heart failure in children, as needed
If the child or adult is found to have a cardiomyopathy, appropriate treatment will be initiated. Genetic counselors are available to provide counseling for the whole family and genetic testing as needed.
Children may not immediately show evidence of a cardiomyopathy, since cardiomyopathies can develop with age. In this case children may need to visit the cardiologist for checkups every one to three years until adult age.
Contact us
- To schedule an appointment with a pediatric cardiologist at the Cardiac Center at CHOP please call 267-426-2882
- To schedule an appointment with an adult cardiologist at the Penn Heart and Vascular Center please call 215-615-0800
Contact Us
For a second opinion, cardiac referral, or for more information.
267-426-9600
To schedule an outpatient appointment.
215-590-4040
