Systems AffectedBarth Syndrome is a rare genetic condition that affects the taffazin gene, or the TAZ1 gene and usually only affects males as it is carried on the X-chromosome. It causes the heart muscles and skeletal muscles to weaken, or the heart to become enlarged, reduces the amount of neutrophils in the body, that help fight bacterial infection, and also causes growth delays.
Symptoms
Note: not all of these symptoms may be present, which can lead to misdiagnosis. DiagnosisUrine Analysis: Impaired mitochondrial function will raise the levels of and organic acid called 3-methylglutaconic. Presence of this is an indicator for Barth syndrome,
Complete Blood Count: Sample of blood will be taken and analyzed. Low levels of Neutropenia is an indicator of Barth Syndrome DNA Test: To look for the mutated TAZ1 gene. Echocardiogram: A type of ultrasound test that uses high-pitched sound waves that are sent through a device called a transducer. The device picks up echoes of the sound waves as they bounce off the different parts of your heart. Used to help reveal abnormalities in the heart tissue. |
TreatmentsThere are no know specific treatments for Barth Syndrome.
Life ExpectancyMany of those diagnosed with Barth Syndrome are prone to die before the age of three. However, medical advances have made it possible for those with Barth Syndrome to live well into their thirties and forties. People with this condition, both children and adults, are also prone to have anxiety or depression, and impaired school production.
Case Study |