Background
death, neutropenia, skeletal myopathy, Barth syndrome, BTHS
GENETIC DISEASE, BARTH SYNDROME, NEUTROPENIA, CARDIOMYOPATHY
Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood. Recently, elamipretide has been tested as a potential first disease-modifying drug. This study aimed to identify patients with BTHS who may respond to elamipretide, based on continuous physiological measurements acquired through wearable devices.