Barth syndrome (BTHS), which was first discovered in 1983 (Barth et al. 1983), is generally recognized as a rare X-linked hereditary disorder characterized by neutropenia, growth retardation, cardiomyopathy (CM), skeletal myopathy, and increased excretion of 3-methylglutaconic acid (3-MGCA) in the urine (Clarke et al. 2013). It has been discovered in 2010 that BTHS was the cause of male fetal death in miscarriages and stillbirths (Clarke et al. 2013). The understanding of the broad and diverse symptoms, along with the introduction of genetic testing and CL assays resulted in rapidly increased case identification in recent years (Clarke et al. 2013).