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Ventricular septal defect in adults

Naser M Ammash, MD
Heidi M Connolly, MD, FASE
Section Editor
Candice Silversides, MD, MS, FRCPC
Deputy Editor
Susan B Yeon, MD, JD, FACC


Ventricular septal defect (VSD) is one of the most common congenital heart defects (second only to bicuspid aortic valve), but accounts for only 10 percent of congenital heart defects in adults because many close spontaneously [1,2]. About 5 percent of patients with VSDs have chromosomal abnormalities including trisomy 13, 18, and 21 syndromes [3]. DNA sequence variants within the GATA6, TBX2, and TBX18 genes may also be involved in VSD genesis [4]. VSDs are of various sizes and locations, can be single or multiple, and in adults may be complicated by subpulmonary stenosis, pulmonary hypertension, and/or aortic or tricuspid valve regurgitation, making their clinical presentation, natural history, and treatment variable and sometimes challenging. Although, VSDs are associated with other congenital heart defects including atrial septal defect (35 percent), patent ductus arteriosus (22 percent), right aortic arch (13 percent), pulmonic stenosis, and more complex defects such as transposition of the great arteries and tetralogy of Fallot, the majority of congenital VSDs in adults present as an isolated defect, which is the focus of this topic [5]. (See "Pathophysiology, clinical manifestations, and diagnosis of D-transposition of the great arteries" and "Pathophysiology, clinical features, and diagnosis of tetralogy of Fallot".)

Ventricular septal defects can be acquired conditions, occurring following surgical or transcatheter aortic valve replacement [6], septal myectomy for hypertrophic cardiomyopathy, and can also occur after acute myocardial infarction. (See "Mechanical complications of acute myocardial infarction", section on 'Rupture of the interventricular septum'.)


The ventricular septum is a nonplanar, three-dimensional partition of the ventricle with five components: the membranous, muscular (also known as trabecular), infundibular, inlet, and atrioventricular segments (figure 1 and figure 2). Ventricular septal defects result from deficient growth or failure of fusion of these components and vary in size from tiny apertures to very large defects with virtual absence of the septum [7]. In 2000, the Society for Thoracic Surgery and the European Association for Cardiothoracic Surgery established a unified reporting system for congenital heart disease including ventricular septal defects (VSDs) [8]. They classified VSD into four types: type 1 defects involve the infundibular septum, type 2 defects involve the membranous septum, type 3 defects involve the inlet septum, and type 4 defects involve the muscular septum.

Infundibular VSD (type 1, also referred to as supracristal, subarterial, subpulmonary, conal, or doubly committed juxta-arterial VSD) results from deficiency in the septum above and anterior to the crista supraventricularis, beneath the aortic and pulmonary valves (figure 2 and image 1 and movie 1 and movie 2). The resultant loss of support of the right and/or the left aortic valve cusp causes cusp prolapse into the VSD, leading to progressive aortic regurgitation and occasionally sinus dilatation, which is the hallmark of this defect [9,10]. Infundibular VSDs are more common in Asia where they account for one third of VSDs compared to a much lower frequency in the United States (6 percent of VSDs) [11,12].

A membranous VSD (type 2, also known as conoventricular) results from deficiency of the membranous septum and is the most common type of VSD (80 percent of VSDs in the United States) (figure 2 and image 2 and movie 3). This defect is inferior to the crista supraventricularis and borders the septal leaflet of the tricuspid valve. The defect may extend into the muscular septum and is then referred to as a perimembranous (or paramembranous) VSD.

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Literature review current through: Oct 2017. | This topic last updated: Oct 07, 2016.
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