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Barth syndrome is a genetic disorder seen only in males. It typically appears during infancy or early childhood, but the age of onset -- as well as the symptoms and the course of the disease -- can vary greatly.
Characteristics of Barth syndrome include:
- heart muscle weakness
- skeletal muscle abnormalities
- low levels of white blood cells that help fight bacterial infections
- slow growth, possibly leading to short stature
- increased levels of some organic acids in the urine and blood.
The most serious of the characteristics is heart muscle weakness. In most boys with Barth syndrome, weakening of the heart muscle (myocardium) leads to the enlargement of the heart's lower chambers (ventricles). Called dilated cardiomyopathy, this condition can lead to weakened heart-pumping action, which results in less blood circulating to the lungs and the rest of the body. Symptoms of dilated cardiomyopathy are often present at birth or appear within the first few months of life.
Muscle weakness and diminished muscle tone are also typical in boys with Barth syndrome and often lead to delayed development of motor skills. These children may experience extreme fatigue during basic activities such as writing or walking.
Additionally, children with Barth syndrome may not grow or gain weight at the expected rate. They may be significantly below-average in weight and height, and may also have mild learning disabilities.
They are also more likely to experience recurring bacterial infections due to a weakened immune system caused by neutropenia, a reduction in the number of neutrophils, a type of white blood cells. This puts boys with Barth syndrome at a greater risk for infections such as bacterial pneumonia.
Early diagnosis is important as heart failure and bacterial infections associated with Barth syndrome can be life-threatening complications if they are not treated as early as possible.
For more information regarding Barth syndrome, please contact Dr. Gerry Cox, in the Genetics Clinic at Children's Hospital Boston at: 617 355-4697.
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