KEGG DISEASE: Ebstein anomaly

KEGG

DISEASE: Ebstein anomaly

Entry

H01783                      Disease

Name

Ebstein anomaly

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the circulatory system
    Structural developmental anomaly of heart or great vessels
     LA87  Congenital anomaly of an atrioventricular valve or atrioventricular septum
      H01783  Ebstein anomaly

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Johnstad CM, Hecker-Fernandes JR, Fernandes R

Title

Ebstein Anomaly: An Overview for Nursing.

Journal

J Pediatr Nurs 30:927-30 (2015)
DOI:10.1016/j.pedn.2015.08.003

Reference

Authors

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

Title

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1.

Journal

Am J Med Genet A 155A:2196-202 (2011)
DOI:10.1002/ajmg.a.34131

LinkDB

» Japanese version

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