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 cardiologist, too.
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:
A person may have one of these conditions for years without knowing it or having symptoms. If one person in a family is diagnosed, it is important that a cardiologist evaluates other family members to assess their risk.
The Children’s Hospital of Philadelphia (CHOP) and Penn Medicine have a special program for patients with cardiomyopathies. Through the CHOP-Penn Familial Cardiomyopathy Program, 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.
To help the cardiologist determine if a child or adult has a cardiomyopathy, your child's first appointment will include:
If your child is found to have a cardiomyopathy, the team will recommend and begin appropriate treatment. If your child shows no evidence of a cardiomyopathy, he may still need to visit the cardiologist for checkups every one to three years until adulthood, since cardiomyopathies can develop with age. In some cases, blood tests can show if family members carry gene differences that may cause cardiomyopathies.
Genetics specialists are available at both Penn and CHOP to provide a comprehensive genetic assessment, counseling for the whole family and assistance with genetic testing.
The Familial Cardiomyopathy Program is led by cardiologists from CHOP and Penn, with an experienced team of physicians, nurses, geneticists, social workers and other specialists who have expertise in managing and treating cardiomyopathies and heart failure in children and adults.
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