The Barth Syndrome Clinic at Kennedy Krieger Institute is an interdisciplinary clinic dedicated to the diagnosis and treatment of Barth Syndrome.
Barth syndrome is a rare X-linked genetic disorder caused by the deficiency of a complex lipid called cardiolipin. Because cardiolipin is the major phospholipid of mitochondria, the elements of cells that make energy, many systems in the body can be affected.
For more than 75 years, Kennedy Krieger has been helping patients with physical and cognitive disabilities. This expertise, combined with our newly expanded, modern facilities, offers our patients access to top experts in their fields and innovative rehabilitative services, all under one roof.
Who We Serve:
We provide expert care for children and adults who have, or are suspected of having, Barth syndrome. Affecting only males, Barth syndrome can cause significant problems, including:
- Cardiomyopathy (abnormal heart muscle)
- Muscle weakness
- Chronic fatigue
- Growth delay and delayed puberty
- Neutropenia (low white blood cell count)
Our clinic features a unique collaboration among experts in Barth syndrome from various disciplines. Our clinicians, research scientists and rehabilitation professionals work together to provide optimal interdisciplinary care for patients. Because Barth syndrome can affect many different systems in the body, treating a patient with Barth syndrome often requires the collaboration of a wide range of medical specialists. Key specialists who see our patients with Barth syndrome include those in the following fields:
- Genetic counseling
- Physical therapy
Evaluation and Diagnosis
As a first step, we discuss the onset and variation in symptoms of Barth syndrome and review any previous genetic and metabolic testing. If a genetic diagnosis has not yet been made, a genetic counselor guides patients and their families through the diagnostic process.
Treatment and Care
For patients with a confirmed diagnosis of Barth syndrome, we provide expertise on the various clinical concerns of the disorder and tailor a treatment plan to each patient’s metabolic and physical needs. Patients will have the opportunity to meet with both a hematologist to address protection against infection, and a cardiologist to discuss cardiac management. An echocardiogram will also be performed to correlate current biochemical status with a patient’s cardiac function. Our clinic can develop individualized nutrition and physical therapy plans to be carried out within the patient’s home healthcare system. In addition, we can also facilitate access to Kennedy Krieger’s comprehensive team of specialists to assist with specific educational, behavioral or other therapy needs.
The full interdisciplinary clinic is held on a quarterly basis. However, individual appointments with clinic physicians can be scheduled as needed.
Our laboratory and clinical research programs play an important role in the Barth Syndrome Clinic. Dedicated to finding and developing new treatments for this disorder, we led the first therapeutic clinical trial for Barth syndrome. We maintain strong collaborations with other academic centers interested in Barth syndrome, and with parent and patient advocacy groups throughout the U.S., the United Kingdom and Europe. We will continue to dedicate our research efforts toward these goals.