Genetic Testing & Screening for Cardiomyopathy

Genetic evaluations for cardiomyopathy patients and their families is a standard of care at Cincinnati Children’s. Genetic testing allows us to identify who is at risk for cardiomyopathy, and helps us understand the genetic make-up of each person’s disease.

We can diagnose and treat children, adolescents and young adults, ensuring consistency of care.

Frequently Asked Questions

What are genes? Show: Genes are packages of genetic information that tell our bodies how to develop and function.
How is genetic testing performed? Show: This type of testing is done by a blood sample. It is best to begin genetic testing in a family with an individual who is known to have the type of cardiomyopathy.
What happens after the genetic test has been performed? Show: After your sample is taken, it will be sent to our on-site diagnostic lab for review.
After this has been processed, a genetics professional will interpret your results and explain them to you and your family.
If a genetic mutation causing cardiomyopathy in an individual is known, screening is recommended for those family members who also carry the gene mutation.
Who is a candidate for genetic testing? Show: When adults or children with cardiomyopathy have a known or suspected genetic cause, close family members should undergo genetic testing.
Finding a gene mutation in other family members will help identify those who may be at risk to develop heart muscle disease and who should have cardiac screening.
What’s the likelihood that cardiomyopathy will be passed to someone in my family? Show: A parent that carries a gene mutation will have a 50 percent chance of passing it on to each child.
Who should undergo genetic screening? Show: Routine cardiac evaluation, or genetic screening, is recommended for family members that carry a genetic mutation for cardiomyopathy.
Routine cardiac screening is not recommended for family members who did not inherit the gene mutation.
The timing of routine cardiac screening for family members should be discussed with a cardiologist and genetics professional who have experience in caring for individuals with cardiomyopathy.
How frequently an individual should be evaluated is based on published guidelines and the individual’s age, personal medical and family history.