Eponym

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• 作者：Atsuhito Takeda (1)
  Akira Sudo (2)
  Masafumi Yamada (1)
  Hirokuni Yamazawa (1)
  Gaku Izumi (3)
  Ichizo Nishino (4)
  Tadashi Ariga (1)
  
• 关键词：Barth syndrome (BTHS) ; Lipid storage myopathy ; Brain natriuretic peptide (BNP) ; Isolated non ; compaction of the ventricular myocardium (INVM) ; Cardiomyopathy
• 刊名：European Journal of Pediatrics
• 出版年：2011
• 出版时间：November 2011
• 年：2011
• 卷：170
• 期：11
• 页码：1365-1367
• 全文大小：93KB
• 参考文献：1. Ades LC, Gedeon AK, Wilson MJ et al (1993) Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28. Am J Med Genet 45(3):327鈥?34. doi:10.1002/ajmg.1320450309 CrossRef
  2. Adwani SS, Whitehead BF, Rees PG et al (1997) Heart transplantation for Barth syndrome. Pediatr Cardiol 18(2):143鈥?45 CrossRef
  3. Barth PG, Scholte HR, Berden JA et al (1983) An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 62(1鈥?):327鈥?55 CrossRef
  4. Barth PG, Valianpour F, Bowen VM et al (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A 126A(4):349鈥?54. doi:10.1002/ajmg.a.20660 CrossRef
  5. Barth PG, Wanders RJ, Vreken P et al (1999) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060). J Inherit Metab Dis 22(4):555鈥?67 CrossRef
  6. Bione S, D'Adamo P, Maestrini E et al (1996) A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12(4):385鈥?89. doi:10.1038/ng0496-385 CrossRef
  7. Bleyl SB, Mumford BR, Thompson V et al (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61(4):868鈥?72. doi:10.1086/514879 CrossRef
  8. Cantlay AM, Shokrollahi K, Allen JT et al (1999) Genetic analysis of the G4.5 gene in families with suspected Barth syndrome. J Pediatr 135(3):311鈥?15 CrossRef
  9. D'Adamo P, Fassone L, Gedeon A et al (1997) The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 61(4):862鈥?67. doi:10.1086/514886 CrossRef
  10. Gedeon AK, Wilson MJ, Colley AC, Sillence DO, Mulley JC (1995) X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J Med Genet 32(5):383鈥?88 CrossRef
  11. Hauff KD, Hatch GM (2006) Cardiolipin metabolism and Barth syndrome. Prog Lipid Res 45(2):91鈥?01. doi:10.1016/j.plipres.2005.12.001 CrossRef
  12. Houtkooper RH, Rodenburg RJ, Thiels C et al (2009) Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography鈥搈ass spectrometry as a diagnostic test for Barth syndrome. Anal Biochem 387(2):230鈥?37. doi:10.1016/j.ab.2009.01.032 CrossRef
  13. Ichida F, Tsubata S, Bowles KR et al (2001) Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103(9):1256鈥?263
  14. Johnston J, Kelley RI, Feigenbaum A et al (1997) Mutation characterization and genotype鈥損henotype correlation in Barth syndrome. Am J Hum Genet 61(5):1053鈥?058. doi:10.1086/301604 CrossRef
  15. Kelley RI, Cheatham JP, Clark BJ et al (1991) X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119(5):738鈥?47 CrossRef
  16. Kulik W, van Lenthe H, Stet FS et al (2008) Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin Chem 54(2):371鈥?78. doi:10.1373/clinchem.2007.095711 CrossRef
  17. Liang WC, Nishino I (2011) Lipid storage myopathy. Curr Neurol Neurosci Rep 11(1):97鈥?03. doi:10.1007/s11910-010-0154-y CrossRef
  18. Neuwald AF (1997) Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 7(8):R465鈥揜466 CrossRef
  19. Schlame M, Kelley RI, Feigenbaum A et al (2003) Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol 42(11):1994鈥?999 CrossRef
  20. Schlame M, Towbin JA, Heerdt PM et al (2002) Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol 51(5):634鈥?37. doi:10.1002/ana.10176 CrossRef
  21. Spencer CT, Bryant RM, Day J et al (2006) Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118(2):e337鈥揺346. doi:10.1542/peds.2005-2667 CrossRef
  22. Spencer CT, Byrne BJ, Gewitz MH et al (2005) Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr Cardiol 26(5):632鈥?37. doi:10.1007/s00246-005-0873-z CrossRef
  23. Stein SM, Dale DC (2003) Molecular basis and therapy of disorders associated with chronic neutropenia. Curr Allergy Asthma Rep 3(5):385鈥?88 CrossRef
  24. Steward CG, Newbury-Ecob RA, Hastings R et al (2010) Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn 30(10):970鈥?76. doi:10.1002/pd.2599 CrossRef
  
• 作者单位：Atsuhito Takeda (1)
  Akira Sudo (2)
  Masafumi Yamada (1)
  Hirokuni Yamazawa (1)
  Gaku Izumi (3)
  Ichizo Nishino (4)
  Tadashi Ariga (1)
  
  1. Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15, West 7, Kita-ku, Sapporo, 060-8638, Japan
  2. Department of Pediatrics, Sapporo City General Hospital, 1-1, North 11, West 13, Chuo-ku, Sapporo, 060-8604, Japan
  3. Department of Pediatric Cardiology, Tokyo Women鈥檚 Medical University, 8-1 Kawada-cho, Shinjukuku, Tokyo, 162-8666, Japan
  4. National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan
  

文摘

Barth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ), which lead to decreased production of an enzyme required to produce cardiolipin, a component of the inner mitochondrial membrane necessary for proper functioning of the electron transport chain. The most common initial presentation of BTHS is significant heart failure due to cardiomyopathy, which is the main cause of death in infancy or childhood. On the other hand, some patients have limited clinical features of BTHS. These patients may be overlooked or misdiagnosed with unclassified congenital myopathy, especially when heart failure is not clinically significant. However, these patients could also develop significant heart failure or life-threatening arrhythmias during or even after childhood. Heart failure in BTHS is often responsive to standard medical therapy, indicating early diagnosis is critical. Diagnostic clues of BTHS in the subclinical stage of heart failure include family histories, findings of lipid storage myopathy in the skeletal muscle biopsy, and elevated plasma brain natriuretic peptide levels. The genetic analysis of TAZ is the only confirmatory method for the diagnosis of BTHS. Conclusion: physicians should be aware of the possibility of this disease and carry out genetic studies when it is considered.