Barth Syndrome Clinic

Kennedy Krieger Institute • 801 North Broadway • Baltimore, Maryland 21205

Directors:

Richard Kelley, MD, PhD

Hilary Vernon, MD, PhD

About Our Program:

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 all cells that make energy, many systems in the body can be affected. For 75 years, Kennedy Krieger's has been helping patients with physical and cognitive disabilities. This expertise, combined with our newly expanded, modern facilities, offer 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. Barth syndrome is a sex-linked genetic disorder, affecting mostly males. Among the more significant problems that patients with Barth syndrome can have are:

  • Cardiomyopathy (abnormal heart muscle)
  • Muscle weakness
  • Chronic fatigue
  • Growth delay and delayed puberty
  • Neutropenia (low white blood cell count)

Our Team:

Our Clinic features a unique collaboration among experts in Barth syndrome, from various disciplines that includes clinicians, research scientists, and rehabilitation professionals 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, but are not limited to, those in the following fields:

  • Metabolism
  • Cardiology
  • Hematology
  • Genetic counseling
  • Physical therapy
  • Nutrition

Our Approach:

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 both with a hematologist, to address protection against infection, and with 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 health care 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.

Research Initiatives:

Our laboratory and clinical research programs play an important role in the Barth Syndrome Clinic. We are dedicated to finding and developing new treatments for this disorder, and we have already seen encouraging improvements using individualized supplements of specific amino acids and other nutrients. 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 shall continue to dedicate our research efforts towards these goals.

Contacts:

For more information or to schedule an appointment, please call:
Local Number: (443) 923-2783
Toll-Free Number: (888) 554-2080
TTY: (443) 923-2645 or MD Relay at 711

Physicians & Healthcare Professionals:
Physician Referral Team: (443) 923-9403

Related Materials and Information
Primary Diagnoses Served: