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Barth Syndrome
Condition Overview: Barth syndrome is a genetic disorder that appears to occur exclusively in males. Although Barth syndrome typically becomes apparent during infancy or early childhood, the age of onset, associated symptoms and findings, and disease course may vary considerably, even among affected members of the same family (kindred). Primary characteristics of the disorder include abnormalities of heart and skeletal muscle (cardioskeletal myopathy); low levels of certain white blood cells (neutrophils) that help to fight bacterial infections (known as neutropenia); and growth retardation, potentially leading to short stature. The disorder is also associated with increased levels of certain organic acids in the urine and blood, particularly 3-methylglutaconic acid (3-methylglutaconic aciduria/acidemia).In most individuals with Barth syndrome, weakening of the heart muscle (myocardium) leads to enlargement (dilation) of the heart's lower chambers (ventricles). Known as dilated cardiomyopathy, signs of this condition are often present at birth (congenital) or may appear during the first months of life. Dilated cardiomyopathy typically leads to weakening of the heart's pumping action, causing a limited ability to circulate blood to the lungs and the rest of the body (heart failure). Symptoms of heart failure may depend on the child's age and other factors. In young children, for example, heart failure may be manifest as fatigue and shortness of breath (dyspnea) with exertion. Barth syndrome is also associated with abnormally diminished muscle tone (hypotonia) and muscle weakness, often leading to delays in the acquisition of gross motor skills. In addition, affected infants and children may fail to grow and gain weight at the expected rate (failure to thrive); may have mild learning disabilities, (although they usually are of normal intelligence); and, in many cases, may be prone to recurrent bacterial infections due to low levels of circulating neutrophils in the blood. Without prompt detection and appropriate treatment, heart failure and bacterial infections can be life-threatening complications. Barth syndrome is transmitted as an X-linked recessive trait. A gene responsible for the disorder has been located on the long arm (q) of chromosome X (Xq28). . |
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