SUMMARY

 

1. Barth syndrome is an X-linked disease characterized by the following clinical features:

- Short stature

- Cardiomyopathy

- Skeletal myopathy (muscle weakness)

- Endocardial fibroelastosis

- Increased urinary 3-methylglutaconate and 3-methylglutarate

- Neutropenia

2. The neutropenia is persistent and can result in serious bacterial infections.

 

3. Barth syndrome is caused by mutations in the TAZ gene. It encodes for a protein involved in cardiolipin metabolism.

 

4. Treatment with G-CSF should be considered for patients with significant neutropenia (ANC <500).

 

 

 

                                                                                                                                       

OVERVIEW

 

          Barth syndrome is an X-linked disease characterized by the following clinical features:

- Short stature

- Cardiomyopathy

- Skeletal myopathy (muscle weakness)

- Endocardial fibroelastosis Increased urinary 3-methylglutaconate and 3-methylglutarate

- Neutropenia

 

          The neutropenia is persistent and can result in serious bacterial infections.

 

          Barth syndrome is caused by mutations in the TAZ gene. It encodes for a protein involved in cardiolipin metabolism.

 

 

                                           

EVALUATION

 

The diagnosis is made based on classic clinical features and can be confirmed by genetic testing. Persistent neutropenia is the main immunologic finding. Other standard tests for humoral and cell-mediated immunity are normal.

 

 

Step 1: Gene Sequencing

         

                      - TAZ gene sequencing

 

                      - TAZ gene sequencing is commercially available at a number of sites (ex. Gene Dx)

 

                                                                                  

MANAGEMENT

 

          Treatment with G-CSF should be considered for patients with significant neutropenia. For patients with an ANC < 500, fever may be a sign of a serious bacterial infection. In such patients, fever >101.3 (38.5 C) or persistent fever greater than 100.4 (38.0 C) requires CBC diff and Blood Cx plus broad spectrum antibiotics for 48 hour rule out sepsis.