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Highlights of Clinical Knowledge

*Publications that acknowledge financial support contributed by Barth Syndrome Foundation (BSF) and/or BSF affiliates.

▼Publications that acknowledge biological samples (and/or information) from Barth syndrome families, the Barth Syndrome Registry and Repository (BRR), and/or BSF affiliates.

For the most up-to-date information, including a full Barth syndrome (BTHS) bibliography and links to PubMed abstracts, please view our Bibliography.


Variable cardiac features but reduced functional exercise capacity (decreased walk times and muscle strength) in 42 BTHS individuals.


Feeding problems found in at least 50% to 70% of BTHS individuals and often present before six months of age.

Pain observed to be prevalent in individuals with BTHS.


Comprehensive review article about BTHS.

  • Ferreira C, Thompson WR, Vernon H. Barth syndrome. GeneReviews. October 9, 2014. (PubMed - OpenAccess)

Moderate CL deficiency associated with milder BTHS phenotype.


Comprehensive review article about BTHS.

  • Clarke SLN, Bowron A, Gonzalez IL, Groves SJ, Newbury-Ecob R, Clayton N, Martin RP, Tsai-Goodman B, Garratt V, Ashworth M, Bowen VM, McCurdy KR, Damin MK, Spencer CT, Toth MJ, Kelley RI, Steward CG. Barth syndrome. Orphanet Journal of Rare Diseases 2013, 8:23. (Open Access)*

Summary of clinically important information about BTHS.

  • Jefferies JL. Barth syndrome. Am J Med Genet C Semin Med Genet. 2013 Aug;163(3):198-205. Epub 2013 Jul 10. (PubMed - Open Access)

Report from French historical experiences with BTHS individuals and discussion of how good medical practices contributed to survival.


Review article detailing longitudinal data collected, including growth curves, from Barth Syndrome Registry and Repository.


Severe exercise intolerance in BTHS due to cardiac and skeletal muscle impairments consistent with cardiac and skeletal mitochondrial myopathy.


First conclusive demonstration that BTHS can cause male fetal loss and stillbirth in multiple families.


Common childhood BTHS facial features include tall and broad forehead, round face, prominent chin, full cheeks, large ears and deep-set eyes. Gynoid stature and fat distribution often develop in late puberty.


Successful cardiac transplantation in BTHS, also emphasizing the importance of accurate diagnosis for post-transplant BTHS patient care.

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