Who else in my family should have testing for Barth syndrome?

Once a boy or man is found to have Barth syndrome, others in his family could also have the condition or be carriers. If a boy or man is diagnosed with Barth syndrome, his mother may be a carrier. She should be offered genetic testing to see if she is a carrier. If she is a carrier, others in the family (such as her other children (if she has them), her sisters, her brothers, her parents) should be offered the option of genetic testing. To discuss arranging genetic testing for Barth syndrome, speak to your doctor of contact a local genetic counselor. In the U.S., you can find a genetic counselor through the "Find a Genetic Counselor" website at http://www.nsgc.org/page/find-a-genetic-counselor (available through the National Society of Genetic Counselors).

Other Questions About Barth syndrome

• Why does Barth syndrome cause heart problems?
• Who else in my family should have testing for Barth syndrome?
• What specialists should I see for Barth syndrome?
• What should parents and siblings of people with Barth syndrome know?
• What should I know about the diet for children with Barth syndrome?