Gerbode defect: A comprehensive review of its history, anatomy, embryology, pathophysiology, diagnosis, and treatment

Abstract

The purpose of this paper is to survey the literature on Gerbode defect and provide an overview of its history, anatomy, development, pathophysiology, diagnosis, and treatment options. The available literature on this topic, including case reports, was thoroughly reviewed. Gerbode defect is defined as abnormal shunting between the left ventricle and right atrium resulting from either a congenital defect or prior cardiac insults. The pathophysiology underlying the development of Gerbode defect is a disease process that injures the atrioventricular septum and leads to the abnormal shunting of blood. Although the most prevalent cause of Gerbode defect has historically been congenital, an increasing trend towards acquired cases has recently been reported owing to improved diagnostic capabilities and a greater number of invasive cardiac procedures. In conclusion, Gerbode defect is an increasingly recognized condition that warrants further study.

Keywords: Classification; Echocardiography; Gerbode defect; History; Intracardiac shunt; Left ventricle to right atrium communication.

Figure 1

Developing heart at approximately 5 weeks (35 days). (Illustration by Jessica Holland ©2016, provided under CC-BY-NC-ND 4.0.)LA = left atrium; LV = left ventricle; RA = right atrium; RV = right ventricle.

Figure 2

Comparison of normal heart to hearts with Gerbode defect. (A) Normal heart, (B) Supravalvular defect involving membranous portion of septal wall, superior to the septal leaflet of the tricuspid valve. (C) Infravalvular defect involving membranous portion of septal wall, below the septal leaflet. (D) Both supravalvular and infravalvular defect with septal leaflet of tricuspid valve. (Illustration by Jessica Holland ©2016, provided under CC-BY-NC-ND 4.0.)

Figure 3

Various positions of infravalvular defects below the septal leaflet. (A) Anterior defect within membranous interventricular septum. (B) Central defect involving both the membranous and muscular septum, (C) Isolated ventricular septal defect resulting from failure of endocardial cushion closure. (Illustration by Jessica Holland ©2016, provided under CC-BY-NC-ND 4.0)