KEGG   DISEASE: エプスタイン病
エントリ  
H01783                                                             
名称    
エプスタイン病
概要    
Ebstein anomaly is a rare congenital heart abnormality, characterized by downward displacement of the tricuspid valve into the right ventricle. Displacement and malformation of the tricuspid valve is accompanied by an enlarged right atrium and a dilated, thinned right ventricle. Ebstein anomaly can occur as a sporadic or a familial defect. It has been reported that deletion 1p36 and deletion 8p23.1 are the most frequent chromosomal structural changes associated with Ebstein anomaly.
カテゴリ  
先天奇形
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
     LA87  房室弁または房室中隔の先天異常
      H01783  エプスタイン病
指定難病 [jp08407.html]
 H01783
リンク   
ICD-11: LA87.03
MeSH: D004437
OMIM: 224700
文献    
  著者
Johnstad CM, Hecker-Fernandes JR, Fernandes R
  タイトル
Ebstein Anomaly: An Overview for Nursing.
  雑誌
J Pediatr Nurs 30:927-30 (2015)
DOI:10.1016/j.pedn.2015.08.003
文献    
  著者
Digilio MC, Bernardini L, Lepri F, Giuffrida MG, Guida V, Baban A, Versacci P, Capolino R, Torres B, De Luca A, Novelli A, Marino B, Dallapiccola B
  タイトル
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.
  雑誌
Am J Med Genet A 155A:2196-202 (2011)
DOI:10.1002/ajmg.a.34131
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