title: Ebstein's Anomaly: Genetics, Clinical Manifestations, and Management.
abstract: 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.
authors.affiliation: Department of Cardiothoracic Surgery, The First Hospital of Putian, Teaching Hospital, Fujian Medical University, Putian 351100, Fujian Province, People's Republic of China. Electronic address: shiminyuan@126.com.
authors.forename: Shi-Min
authors.initials: SM
authors.lastname: Yuan
mesh_terms: D006348:Cardiac Surgical Procedures; D003131:Combined Modality Therapy; D004437:Ebstein Anomaly / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D009154:Mutation
keywords: Ebstein's anomaly; cardiac surgical procedures; congenital heart defect; genetics; tricuspid valve