The Barth Syndrome Arrhythmia Project
Barth syndrome is a rare X-linked mitochondrial disease, characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth delay. It is caused by mutated tafazzin (TAFAZZIN), which results in severe deficiency and altered biochemistry of the phospholipid cardiolipin. The Barth cardiomyopathy (including the dilated, hypertrophic, and noncompaction forms) causes significant morbidity and mortality. Sudden death is hypothesized to be due to heart failure and ventricular arrhythmias. However, our understanding of the burden and progression of cardiac disease in Barth syndrome remains scant.
To address this unmet research and clinical need, the proposed Collaborative Clinical Registry in Barth syndrome (CCRBS) will include not only efforts to gather clinical data into a central repository, but also recruit patients for robust, standardized clinical parameters that will be used to define risk factors and prognostic indicators. The registry will include both retrospective and prospective arms and will lay the foundation for a true and complete, natural history study of Barth syndrome that will inform the development of targeted therapies.
Colin Phoon & Reina Tan (NYU Langone), Brian Feingold (U Pittsburgh), Reid Thompson (JHMI/KKI), Carolyn Taylor (MUSC), Bryan Drake (Advocate), Erik Lontok & Shelley Bowen (BSF), William Pu (BCH), and John Jefferies (UTHSC)