Barth syndrome – case history
Authors:
S. Tárnoková 1; C. Šebová 1; K. Brennerová 2; J. Perečková 1; P. Kunovský 3; R. Riedel 4; M. Ďuranová 5; V. Bzdúch 2
Authors‘ workplace:
Centrum dedičných metabolických porúch Oddelenia laboratórnej medicíny, Národný ústav detských chorôb, Bratislava
1; Detská klinika LFUK a Národneho ústavu detských chorôb, Bratislava
2; Oddelenie JIS, Detské kardiocentrum, Národný ústav srdcových a cievnych chorôb, Bratislava
3; Detská klinika anesteziológie a intenzívnej medicíny, Národný ústav detských chorôb, Bratislava
4; Laboratórium lekárskej genetiky, Alphamedical s. r. o., Bratislava
5
Published in:
Čes-slov Pediat 2018; 73 (6): 384-388.
Category:
Overview
Barth syndrome is a rare mitochondrial disorder linked to chromosome X. It is characterized by a wide range of clinical signs and laboratory findings, most typically heart disease, myopathy, neutropenia, growth failure and 3-methylglutaconic aciduria. It is considered to be a underdiagnosed disease with the risk of sudden death in childhood.
We report the first patient in Slovakia with proven Barth syndrome manifested by cardiac decompensation with the finding of left ventricular noncompaction cardiomyopathy and hepatic dysfunction with severe coagulopathy in the 3rd week of life. Based on the metabolic examination, clinical signs and a positive family history of two boys who died in infancy due to cardiac disorder, the diagnosis of Barth syndrome was genetically confirmed in the 7th week of life.
KEY WORDS
Barth syndrome, left ventricular noncompaction, 3-methylglutaconic aciduria, neutropenia, mitochondrial disorder
Sources
1. Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 2004; 126A (4): 349–354.
2. Barth PG, Scholte HR, Berden JA, et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983; 62 (1–3): 327–355.
3. Bione S, D‘Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996; 12 (4): 385–389.
4. Adès LC, Gedeon AK, Wilson MJ, et al. Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 1993; 45 (3): 327–334.
5. Bolhuis PA, Hensels GW, Hulsebos TJ, et al. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 1991; 48 (3): 481–485.
6. Koshkin V, Greenberg ML. Cardiolipin prevents rate-dependent uncoupling and provides osmotic stability in yeast mitochondria. Biochem J 2002; 15; 364 (Pt 1): 317–322.
7. Gonzalvez F, Gottlieb E. Cardiolipin: setting the beat of apoptosis. Apoptosis 2007; 12 (5): 877–885.
8. Neuwald AF. Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 1997; 7 (8): 465–466.
9. Brandner K, Mick DU, Frazier AE, et al. Taz1, an outer mitochondrial membrane protein, affects stability and assembly of inner membrane protein complexes: implications for Barth Syndrome. Mol Biol Cell 2005; 16 (11): 5202–5214.
10. D‘Adamo P, Fassone L, Gedeon A, et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997; 61 (4): 862–867.
11. Brady AN, Shehata BM, Fernhoff PM. X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene. Prenat Diagn 2006; 26 (5):462–465.
12. Ronvelia D, Greenwood J, Platt J, et al. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Mol Genet Metab 2012; 107 (3): 428–432.
13. Clarke SL, Bowron A, Gonzalez IL, et al. Barth syndrome. Orphanet J Rare Dis 2013; 8: 23.
14. Mazurová S, Tesařová M, Magner M, et al. Novel mutations in the TAZ gene in patients with Barth syndrome. Prague Medical Report 2013; 114 (3): 139–153.
15. Kelley RI, Cheatham JP, Clark BJ, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 1991; 119 (5): 738–747.
16. Spencer CT, Bryant RM, Day J, et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 2006; 118 (2): e337–346.
17. Hanke SP, Gardner AB, Lombardi JP, et al. Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation. Pediatr Cardiol 2012; 33 (8): 1430–1434.
18. Roberts AE, Nixon C, Steward CG, et al. The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study. Am J Med Genet A 2012; 158A (11): 2726–2732.
19. Jefferies JL, Towbin JA. Dilated cardiomyopathy. Lancet 2010; 375 (9716): 752––762.
20. Gersh BJ, Maron BJ, Bonow RO, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011;124 (24): 2761–2796.
21. Brescia ST, Rossano JW, Pignatelli R, et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation 2013; 127 (22): 2202–2208.
22. Towbin A, Ballweg J, Johnsson J. Left ventricular noncompaction cardiomyopathy. In: Jefferies J., Chang A., Rossano J. Heart Failure in the Child and Young Adult. 1st ed. London: Academic Press, 2018: 269–290.
23. Cantlay AM, Shokrollahi K, Allen JT, et al. Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 1999; 135 (3): 311–315.
24. Thiels CH, Fleger M, Huemer H, et al. Atypical clinical presentations of TAZ mutations: An underdiagnosed cause of growth retardation? JIMD Rep 2016; 29: 89–93.
25. Wilson LD, Al-Majid S, Rakovski CS, et al. Higher IL-6 and IL6:IGF ratio in patients with Barth syndrome. J Inflamm (Lond) 2012, 21; 9 (1): 25.
26. Coman D, Yaplito-Lee J, Boneh A. New indications and controversies in arginine therapy. Clin Nutr 2008; 27 (4): 489–496.
27. Rigaud C, Lebre AS, Touraine R, et al. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet J Rare Dis 2013; 8: 70.
28. Barth PG, Wanders RJ, Vreken P. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060. J Pediatr 1999; 135 (3): 273–276.
29. Wortmann SB, Duran M, Anikster Y, et.al. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis 2013; 36 (6): 923–928.
30. Duran M, Beemer FA, Tibosch AS, et al. Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. J Pediatr 1982; 101 (4): 551–554.
31. IJlst L, Loupatty FJ, Ruiter JP, et al. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet 2002; 71 (6): 1463–1466.
32. Su B, Ryan RO. Metabolic biology of 3-methylglutaconic acid-uria: a new perspective. J Inherit Metab Dis 2014; 37 (3): 359–368.
33. Christodoulou J, McInnes RR, Jay V, et al. Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet 1994; 50 (3): 255–264.
34. Yen TY, Hwu WL, Chien YH, et al. Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr 2008; 167 (8): 941–944.
35. Donati MA, Malvagia S, Pasquini E, et al. Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis 2006; 29 (5): 684.
36. Vreken P, Valianpour F, Nijtmans LG, et al. Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 2000; 279 (2): 378–382.
37. Kulik W, van Lenthe H, Stet FS, et al. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin Chem 2008; 54 (2): 371–378.
Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2018 Issue 6
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