Barth Syndrome is a rare genetic disorder only associated with the X chromosome. The condition affects growth and causes cardiomyopathy and neutropenia. The study included males with an official diagnosis of Barth Syndrome (BTHS). The participants were included in BTHS Registry operated by the Barth Foundation. A total of 73 participants started the study. The average diagnostic age of participants was 4 years (+ or - 5.45 years). Most of the participants reported some form of heart dysfunction, but 6% of participants claimed no such symptom. In total 70% of study participants suffered cardiomyopathy, 12% required heart transplant and 6.8% died during the course of data collection.
Conclusion: Researchers were able to create a growth curve for male patients with BTHS. They were also able to substantiate low birth weight and newborn complications, but specific complications and severity differed between patients. The final conclusion of the study was that male patients with BTHS have different symptoms, suffer different complications and grow at different rates.
Source: Roberts AE, Nixon C, Steward CG, Gauvreau K, Maisenbacher M, Fletcher M, Geva J, Byrne BJ, Spencer CT. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012 Oct 8. doi: 10.1002/ajmg.a.35609.