Who We Are

Welcome to the Barth Syndrome Registry (BRR). Barth syndrome is rare genetic disorder that primarily affects only males. It is a disease that impacts many parts of the body especially the heart and the musculature. The main characteristics include: cardiomyopathy (heart problems), hypotonia (muscle weakness), underdeveloped skeletal muscles, growth problems, fatigue, and neutropenia (decreased number of white blood cells). In some Barth syndrome individuals the symptoms can be very severe, sometimes resulting in heart transplant, severe infections, and even death. Many affected individuals are diagnosed in infancy with severe heart failure.

Barth syndrome is caused by mutations in the tafazzin gene, which is located on the X chromosome. Barth syndrome is an X-linked disorder. Women who possess a defective tafazzin gene are usually asymptomatic carriers (do not have any physical problems) while males with the defective gene are affected with the syndrome. Often there is more than one male affected in a family’s medical history.

Barth syndrome appears in all ethnic groups and does not appear to be more common in one country over another. The incidence of Barth syndrome classifies it as a rare disease. Often the diagnosis of Barth syndrome is missed because many infants with dilated cardiomyopathy and/or neutropenia die in the newborn period or because older patients may have only mild cardiomyopathy and do not acknowledge that they have a medical problem. With better diagnostic tests and more awareness, the real incidence of Barth syndrome in the population is likely to increase.

The Barth Syndrome Registry was created by the Barth Syndrome Foundation to provide additional information about this rare disorder for families, for physicians, and for researchers. By collecting information directly from the Barth syndrome individuals or their families, we provide a resource that can help understand this disease. The data compiled in this registry will help to facilitate clinical trials and other research studies about Barth syndrome. In addition, the Barth Syndrome Registry will coordinate with other rare disease registries to compare common elements and encourage research efforts to find treatments for many rare diseases including Barth syndrome.

To learn more about the Barth syndrome visit the Barth Syndrome Foundation website at http://www.barthsyndrome.org.