Barth Syndrome: A Rare and Often Misdiagnosed Genetic Disease

Barth Syndrome is one of the rarest of genetic diseases and one of the most serious. It is estimated that Barth Syndrome occurs in just 1 out of every 300,000 to 400,000 births in the United States. The gene that causes Barth Syndrome was only identified in 1996 and that is what has led to the progress that doctors and researchers have been able to make in diagnosing and understanding Barth Syndrome.

Barth Syndrome is a genetic disorder that is passed down from mother to son. Barth Syndrome is know to be prevalent in just 50 families around the world, but since it is so rare it is also believed to be mis diagnosed. Barth Syndrome occurs in different ethnic groups and is not prevalent in any one in particular. The cause is a mutation in one gene: the tafazzin gene also called TAZ or G4.5. Females are carriers of the condition and do not show any symptoms. If a woman who is a carrier has a son, he has a 50% chance of having Barth Syndrom. If a man with Barth Syndrom has a daughter, she will be a carrier, but a son will not have the condition. However, there have been instanced where a women who is not a carrier has had a son with the condition.

A Barth Syndrom patient can have any one or a combination of these symptoms. Cardiomyopathy: a condition in which the heart is weak and enlarged. Neutrophils are white blood cells that fight infections. Barth Syndrom patients can have a low number of neutrophils causing mouth ulcers, fevers, pheumonia and skin abscesses. Other symptoms include muscle weakness, fatigue, growth delay, an increase in organic acid, low blood sugar, and Cardiolipin Deficiency.

There are specific tests done to confirm a diagnosis of Barth Syndrom. Finding the gene mutation itself or finding of a severely depressed level of tetralinoleoyl-cardiolipin are the most definitive indications, but these tests can take too long. A complete blood count can detect neutropenia. Heart problems can begin as early as the third trimester, but most often appear in the first 6 months of life. A echocardiogram can detect the particular heart defects. Cardiolipin deficiency can be detected, however there is only one lab in the Netherlands approved for the testing. Other labs can do testing for research purposes.

The prognosis today for a Barth Syndrom patients is much better than a few years ago when many died of heart failure or bacterial infection at an early age. Early detection is the most important factor affecting the individual prognosis.

There is no specific treatment for Barth Syndrom, rather treatments are ordered for the specific symptoms. Antibiotics are used to treat infections, white blood cell production can be increased by the use of a drug called Granulocyte Colony Stimulating Factor, there are medications for the heart problems and a very restricted and monitored diet is necessary to provide proper nutrition. In many cases, the heart problems and delayed growth problems disappear when the child enters puberty.

Sources
Barth Syndrome Foundation
National Institute of Neurological Disorders and Stroke
Kennedy Krieger Institute
Barth Syndrome Foundation