Barth syndrome is a rare, genetic disorder which is primarily characterized by the following conditions: 1) enlarged and weakened heart 2) weakness in muscles used for movement 3) small numbers of white blood cells 4) short stature This syndrome, which exclusively occurs in males, is transmitted from a mother her son. However, a mother who is a carrier of the syndrome mutation exhibits no signs and symptoms of this disorder herself. Infants born with this syndrome are often smaller in height.
HOW IS BARTH SYNDROME DIAGNOSED?
It is diagnosed by a cardiologist through: 1. Physical examination 2. Genetic history 3. ECG 4. Stress test
HOW IS BARTH SYNDROME TREATED?
Barth syndrome is treated by addressing specific symptoms found in each individual. Treatment requires a coordinated effort of specialists like pediatric cardiologists, hematologist, occupational therapist and others. Infants born with Barth syndrome may require diuretic and digitalis medications to treat heart failure. Antibiotics may be given for individuals diagnosed with neutropenia.
DID YOU KNOW?
This condition was considered fatal for infants at one point.