Barth syndrome (BTHS)

BTHS is a rare, X-linked genetic disorder. Its prevalence is estimated around  1: 140, 000 births. It is caused by missense mutations, small insertions or deletions on TAZ gene, important gene for the expression of cardiolipin for mitochondria. In small percentages de novo or large deletions can cause BTH syndrome. 

Multiple clinical features appear and in particular cardiomyopathy and many features from cardiovascular system, delayed motor milestones, myopathy, exercise intolerance, mild learning disabilities, attention deficits, neutropenia, infection recurrence, hypoglycaemia, hypocholesterolaemia, delayed puberty, lactic acidosis, aciduria, osteopenia, face dysmorphies, feeding problems, diarrhea. 

Diagnostic triage was cardiomyopathy, neutropenia and aciduria. But neutropenia or aciduria do not always appear, so new accurate, sensitive and Barth specific methods are used such as cardiolipin ratio analysis or TAZ ratio. Genetic counseling is essential for healthy couples with cardiomyopathy family history. 

Standard heart failure management, placement of ICD, long term surveillance of arrhythmias, and cardiac transplantation in 14% of BTHS cases are the conventional medical approach. Specific diet, prophylactic antibiotics, G-CSF, physiotherapy, occupational therapy, speech therapy, psychological and educational support are also essential. 

Connecting with patient groups experiencing and living with Barth Syndrome: https://www.barthsyndrome.org/  

Other useful sites: 

  1. https://www.umdf.org/types/
  2. https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome
  3. https://rarediseases.org/rare-diseases/barth-syndrome/
  4. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=111
  5. https://www.omim.org/entry/302060

References 

  1. 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, 158A:2726–2732.

  1. Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, et al: Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn, 2010, 30:970–976.
  2. Vreken P, Valianpour F, Nijtmans LG, Grivell LA, Plecko B, Wanders RJA, Barth PG: Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Comm, 2000, 279:378–382.
  3. Gonzalez IL: Barth syndrome: TAZ gene mutations, mRNAs, and evolution. Am J Med Genet A, 2005, 134A:409–414.
  4. Spencer CT, Bryant RM, Day J, Gonzalez IL, Colan SD, Thompson WR, Berthy J, Redfearn SP, Byrne BJ: Cardiac and clinical phenotype in Barth syndrome. Pediatrics, 2006, 118:E337–E346.
  5. Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJA: X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A, 2004, 126A:349–354.
  6. Yen TY, Hwu WL, Chien YH, Wu MH, Lin MT, Tsao LY, Hsieh WS, Lee NC: Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr, 2008, 167:941–944.
  7. Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T: Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium. Eur J Pediatr, 2011, 170:1481–1484.
  8. Clarke et al.: Barth syndrome. Orphanet Journal of Rare Diseases, 2013, 8:23.

 

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