Anatomy of the ventricular septal defect in congenital heart defects: a random association?

Abstract

BackgroundA ventricular septal defect (VSD) is an integral part of most congenital heart defects (CHD). To determine the prevalence of VSD in various types of CHD and the distribution of their anatomic types.MethodsWe reviewed 1178 heart specimens with CHD from the anatomic collection of the French Reference Centre for Complex Congenital Heart Defects. During the morphologic study a special attention was paid to the localisation of the VSD viewed from the right ventricular side. The VSDs were classified as muscular, central perimembranous, outlet located between the two limbs of the septal band, and inlet. The specimens were classified according to the 9 categories and 23 subcategories of the anatomic and clinical classification of CHD1 (ACC-CHD).ResultsVentricular septum was almost always intact in anomalies of pulmonary veins (4/73, 5%), Ebstein anomaly (3/21, 14%), and double-inlet right ventricle (DIRV, 1/10, 10%). There was always a VSD in tetralogy of Fallot and variants (TOF, 123 cases) and common arterial trunk (CAT, 55 cases), always of the outlet type. There was almost always a VSD in double inlet left ventricle (33/34, 97%, always muscular), congenitally corrected transposition of great arteries (ccTGA, 23/24, 96%), interrupted aortic arch (IAA, 25/27, 93%), and double outlet right ventricle (DORV, 92/106, 87%). A VSD was found in 68% of aortic coarctation (CoA, 43/63), 62% of heterotaxy syndromes (21/34), 54% of transposition of the great arteries (TGA, 104/194). The VSD was located between the two limbs of the septal band in 100% of TOF and CAT, 80% of IAA, 77% of DORV, 82% of DD. The VSD was of the inlet type in 17% of cc TGA and in 71% of heterotaxy syndromes. In TGA, the VSD was outlet in 40%, central perimembranous in 25%, muscular in 25%, inlet in 10%. In CoA, the VSD was outlet in 44%, central perimembranous in 35%, muscular in 21%. In the 10% hearts with isolated VSD, the distribution was outlet in 44%, central perimembranous in 36%, muscular in 18%, and inlet in 2%.ConclusionThe anatomic distribution of VSD is similar in isolated VSD, CoA and TGA, while the VSD is predominantly outlet in outflow tract defects except TGA. This reinforces the allegedly different mechanisms in TGA and cardiac neural crest defects. This anatomic approach could provide new insights in the grouping and aetiology of CHD.

Numerical Simulation of the Influence of Geometric Configurations on Pressure Difference in the Intraventricular Tunnel

“…By combining cardiac CT angiography with 3D printing technology, scholars can accurately determine the pathological classification of DORV before surgery. Pathological heart model analysis and simulated surgery can significantly reduce the intraoperative exploration time of DORV with VSD far from the two main arteries (Lefort et al, 2001;Meduri et al, 2007;Garekar et al, 2016;Pang et al, 2017;Wang et al, 2017;Mostefa-Kara et al, 2018).…”

Comparison of Fast-Track and Conventional Anesthesia for Transthoracic Closure of Ventricular Septal Defects in Pediatric Patients

“…VSD is one of the most common congenital heart defects. 8,9) The traditional repair of VSDs by cardiopulmonary bypass is safe, reliable, effective, and widely applicable. However, this technique introduces substantial trauma and results in high incidences of postoperative complications and a long recovery time.…”

A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis

“…Additional features observed in our patient include bronchopneumonia, VSD, and pulmonary hypertension. VSD is the most common phenotype of congenital heart disease (CHD; Liu et al, 2019;Mostefa-Kara, Houyel, & Bonnet, 2018). Previous articles have also reported three acrodysostosis patients caused by PDE4D mutations accompanied by simple CHD (- Table S4; Lindstrand et al, 2014;Lynch et al, 2013).…”