Echocardiographic Variables Predict Outcome In Children, Adolescents, And Adults With Barth Syndrome: A Longitudinal Observational Study

Barth Syndrome (BTHS) is an X-linked mitochondrial cardio-skeletal myopathy caused by defects in TAFAZZIN, the gene responsible for the final remodeling step to produce mature cardiolipin. Critical for mitochondrial function, lack of cardiolipin leads to clinical manifestations including cardiomyopathy (typically dilated and/or noncompaction), muscle weakness, fatigue, neutropenia, and growth abnormalities. Cardiac disease primarily drives outcome in BTHS. Natural history data, especially outcomes outside of infancy, are poorly understood.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 057 Source Type: research