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

详细信息    查看全文

• 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 noncompaction 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：1481-1484
• 全文大小：222KB
• 参考文献：1. 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
  2. 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
  3. 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
  4. 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
  5. Hsu DT (2010) Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev 11(1):35鈥?8. doi:10.1016/j.prrv.2009.10.004 CrossRef
  6. 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
  7. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 86(6):666鈥?71 CrossRef
  8. Johnston J, Kelley RI, Feigenbaum A et al (1997) Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet 61(5):1053鈥?058. doi:10.1086/301604 CrossRef
  9. 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
  10. Kuijpers TW, Maianski NA, Tool AT et al (2004) Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 103(10):3915鈥?923. doi:10.1182/blood-2003-11-3940 CrossRef
  11. Neuwald AF (1997) Barth syndrome may be due to an acyltransferase deficiency. Curr Biol 7(8):R465鈥揜466 CrossRef
  12. Petersen SE, Selvanayagam JB, Wiesmann F et al (2005) Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46(1):101鈥?05. doi:10.1016/j.jacc.2005.03.045 CrossRef
  13. 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
  14. 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
  15. Sweeney RT, Davis GJ, Noonan JA (2008) Cardiomyopathy of unknown etiology: Barth syndrome unrecognized. Congenit Heart Dis 3(6):443鈥?48. doi:10.1111/j.1747-0803.2008.00226.x CrossRef
  16. Takeda A, Sudo A, Yamada M et al (2011) Barth syndrome. Eur J Pediatr (in press)
  
• 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 (BTHS) is an X-linked disorder characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ). Although early diagnosis is critical to prevent the progression of heart failure, this disease remains unrecognized when heart failure is not clinically significant. Here we report on a 13-year-old boy with no family history of BTHS who was diagnosed with the syndrome in the subclinical stage of heart failure. The clues to the diagnosis of BTHS in this patient were the findings of lipid storage myopathy in the skeletal muscle biopsy, elevated plasma brain natriuretic peptide, and the diagnosis of isolated noncompaction of the ventricular myocardium in echocardiography. Genetic studies of TAZ revealed a disease-causing mutation (p.Gly216Arg) in this patient. Physicians should be aware of the possibility of this disease and carry out genetic studies when it is considered.