What is Barth Syndrome

Barth syndrome is a rare, life-threatening genetic disorder primarily affecting males, characterized by heart muscle weakness (cardiomyopathy), muscle weakness, and a low white blood cell count (neutropenia). It is caused by mutations in the TAZ gene, which disrupts the body’s ability to create cardiolipin, a vital fat necessary for proper mitochondrial energy production.

What causes Barth syndrome and how does it affect the body?

Barth syndrome is caused by a mutation in the TAZ gene, which provides instructions for making an enzyme called tafazzin. This enzyme is essential for the structure of cardiolipin, a lipid found in the inner membrane of mitochondria—the "power plants" of our cells. When Barth syndrome disrupts this process, cells cannot produce enough energy, leading to systemic issues. The condition impacts the heart (often causing dilated cardiomyopathy), the skeletal muscles, and the immune system, leaving individuals susceptible to recurrent infections due to neutropenia.

Who is typically affected by Barth syndrome?

Barth syndrome follows an X-linked recessive inheritance pattern, meaning it almost exclusively affects males. While symptoms often appear in infancy or early childhood, the diagnosis can sometimes be delayed. It is an ultra-rare condition, with an estimated prevalence between 1 in 300,000 and 1 in 400,000 live births worldwide. Because it is a genetic condition, it is not tied to any specific geographic or ethnic population.

What are the primary clinical features of Barth syndrome?

The clinical presentation of Barth syndrome is complex and multi-systemic. Key features often include:

• Cardiomyopathy: Typically dilated cardiomyopathy, which may be present at birth or develop within the first few months of life.


• Neutropenia: A chronic or intermittent shortage of neutrophils, increasing the risk of severe bacterial infections.


• Growth and Muscle Issues: Delayed growth, failure to thrive, and generalized skeletal muscle weakness (myopathy) causing fatigue.


• Metabolic profile: Elevated levels of 3-methylglutaconic acid in the urine, which is a common diagnostic marker.

Next steps

• Consult with a pediatric cardiologist and a metabolic specialist to coordinate a multidisciplinary care plan.


• Join the Barth syndrome community at DiseaseMaps.org to connect with other families and share experiences.


• Contact the Barth Syndrome Foundation for access to specialized resources, registry information, and the latest clinical trial updates.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific health situation.

References

• NIH Genetic and Rare Diseases (GARD) Information Center: Barth Syndrome


• Orphanet: Barth Syndrome (ORPHA:106)


• OMIM (Online Mendelian Inheritance in Man): Barth Syndrome (#302060)


• Barth Syndrome Foundation: Clinical Guidelines and Research Updates