Diagnosis of Barth Syndrome

Barth syndrome (BTHS) is a rare, X-linked genetic disorder of lipid metabolism that primarily affects males across different ethnicities. Typically, individuals with BTHS present with hypotonia (low muscle tone) and dilated cardiomyopathy (labored breathing, poor appetite, and/or slow weight gain) at or within the first few months after birth. Other important features of Barth syndrome include bacterial infections due to neutropenia (a reduction in the number of white blood cells called neutrophils), muscle weakness, fatigue, and growth delay. Although most children with Barth syndrome manifest all of these characteristics, some have only one or two of these abnormalities and, as a result, often are given incorrect diagnoses.

Barth syndrome occurs in many different ethnic groups and does not appear to be more common in any one group. To date, there are no good studies of the population or birth incidence of Barth syndrome. The gene for Barth syndrome, tafazzin (TAZ, also called G4.5), is located on the long arm of the X chromosome (Xq28). Mutations in the tafazzin gene lead to decreased production of an enzyme required for the synthesis of “cardiolipin,” a special lipid that is important in energy metabolism.

There is no specific treatment for Barth syndrome, but each of the individual problems can be successfully controlled, and short stature often resolves after puberty.

Benefits of an Accurate Diagnosis

  • Saves lives and improves quality of life.
  • Provides families and healthcare providers with an appreciation of the complexities and health risks of all components of the disorder, thereby yielding better outcomes for the affected individual.
  • Provides families and healthcare providers an opportunity to access data pertaining specifically to Barth syndrome.
  • Provides families the opportunity for family planning.
  • Provides families and educators the opportunity to develop individualized educational planning.
  • Provides families and healthcare providers the opportunity to an informed approach to care, significantly reducing contraindicated treatment risks.

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The Barth Syndrome Foundation of Canada is a completely volunteer, charitable foundation. We fund critical research and provide support and information to affected individuals, families, and medical professionals.