Ebstein's Anomaly: Genetics, Clinical Manifestations, and Management

Pediatr Neonatol. 2017 Jun;58(3):211-215. doi: 10.1016/j.pedneo.2016.08.004. Epub 2016 Nov 19.


Ebstein's anomaly is uncommon. Genetic bases of this congenital heart defect may be related to the mutations in myosin heavy chain 7 and NKX2.5, among others. Asymptomatic patients with Ebstein's anomaly can be conservatively treated and kept under close follow-up, whereas surgical operation is indicated for those patients with evidence of right heart dilation and progressively impaired ventricular systolic function. A biventricular repair consisting of the reconstruction of a competent monocuspid tricuspid valve, right ventriculorrhaphy, subtotal atrial septal defect closure, and aggressive reduction atrioplasty is suitable for most patients, and 1.5-ventricular repair (bidirectional Glenn shunt) is indicated for patients with poor right ventricular function; by contrast, heart transplantation is used in patients with severe left ventricular dysfunction.

Keywords: Ebstein's anomaly; cardiac surgical procedures; congenital heart defect; genetics; tricuspid valve.

Publication types

  • Review

MeSH terms

  • Cardiac Surgical Procedures
  • Combined Modality Therapy
  • Ebstein Anomaly* / diagnosis
  • Ebstein Anomaly* / genetics
  • Ebstein Anomaly* / therapy
  • Humans
  • Mutation