KEGG   DISEASE: 総動脈幹遺残症
エントリ  
H01736                                                             
名称    
総動脈幹遺残症
概要    
Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is recognized as the most severe phenotype of outflow tract defect, and survival into adulthood is dismal without surgery. It is often associated with an unfavorable prognosis because complete surgical repair is not always possible. Mutations in the NKX2-6 gene and GATA6 gene have been found in patients with PTA. The association between truncus arteriosus and chromosome 22q11 deletion is well recognized.
カテゴリ  
循環器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   循環器系の構造的発達異常
    心臓または大血管の構造的発達異常
     LA85  房室または心室大血管結合の先天異常
      H01736  総動脈幹遺残症
指定難病 [jp08407.html]
 H01736
病因遺伝子 
NKX2-6 [HSA:137814] [KO:K09346]
GATA6 [HSA:2627] [KO:K17897]
コメント  
See also H01525 22q11.2 deletion syndrome.
リンク   
ICD-11: LA85.4
MeSH: D014339
OMIM: 217095
文献    
  著者
Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P
  タイトル
Common arterial trunk associated with a homeodomain mutation of NKX2.6.
  雑誌
Hum Mol Genet 14:585-93 (2005)
DOI:10.1093/hmg/ddi055
文献    
  著者
Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R, Yamagishi H
  タイトル
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling.
  雑誌
Proc Natl Acad Sci U S A 106:13933-8 (2009)
DOI:10.1073/pnas.0904744106
文献    
  著者
McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E
  タイトル
Chromosome 22q11 deletion in patients with truncus arteriosus.
  雑誌
Pediatr Cardiol 24:569-73 (2003)
DOI:10.1007/s00246-003-0441-3
文献    
  著者
Ruan W, Loh YJ, Guo KW, Tan JL
  タイトル
Surgical correction of persistent truncus arteriosus on a 33-year-old male with unilateral pulmonary hypertension from migration of pulmonary artery band.
  雑誌
J Cardiothorac Surg 11:39 (2016)
DOI:10.1186/s13019-016-0435-x
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