Ventricular Septal Defects Differential Diagnoses

Sections

DDx

Diagnostic Considerations

In addition to the conditions listed in the differential diagnosis of ventricular septal defect (VSD), other problems to be considered include the following:

VSD with associated defects
Atrioventricular (AV) septal defect
Double-outlet right ventricle (RV) with normally related great arteries
Mild or moderate subaortic stenosis

Differential Diagnoses

Workup

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Media Gallery

A: Image shows a ventricular septum viewed from the right side. It has the following 4 components: inlet septum from the tricuspid annulus to the attachments of the tricuspid valve (I); trabecular septum from inlet to apex and up to the smooth-walled outlet (T); outlet septum, which extends to the pulmonary valve (O); and membranous septum. B: Anatomic positions of the defects are as follows: outlet defect (a); papillary muscle of the conus (b); perimembranous defect (c); marginal muscular defects (d); central muscular defects (e); inlet defect (f); and apical muscular defects (g).
Schematic representation of the location of various types of ventricular septal defects (VSDs) from the right ventricular aspect. A = Doubly committed subarterial ventricular septal defect; B = Perimembranous ventricular septal defect; C = Inlet or atrioventricular canal-type ventricular septal defect; D = Muscular ventricular septal defect.
Supracristal ventricular septal defect (VSD). Top image: Parasternal long-axis view shows the defect just below the aortic root. Middle image: The plane of sound is tilted to view the right ventricular outflow tract, and the defect is observed below the pulmonic valve. Bottom image: Parasternal short-axis view shows the ventricular septal defect between the aortic root (Ao) and the pulmonic valve (PV). LA = Left atrium; LV = Left ventricle; PA = Pulmonary artery; RA = Right atrium; RV = Right ventricle.
Echocardiogram of a child with a perimembranous ventricular septal defect (VSD). Note the defect at the 10 o'clock position in the parasternal short-axis view. AO = Aortic root; LA = Left atrium; LV = Left ventricle; PA = Pulmonary artery; RA = Right atrium; RV = Right ventricle.
Apical 4-chamber views. A: Image shows a large inlet defect. The defect is posterior and at the level of the atrioventricular valves. B: Image shows a small midmuscular ventricular septal defect. LA = Left atrium; LV = Left ventricle; PA = Pulmonary artery; RA = Right atrium; RV = Right ventricle.

of 5

Syndrome	CCVM (%)	Type of CCVM
Del 4q, 21, 32	60	Ventricular septal defect, atrial septal defect
Del 5p	30-60	Ventricular septal defect
Trisomy 13	80	Atrial septal defect, ventricular septal defect, TOF
Trisomy 18, Edwards syndrome	100	Ventricular septal defect, TOF, double-outlet right ventricle (DORV)
Trisomy 21, Down syndrome	40-50	Ventricular septal defect, atrioventricular canal (AVC)
Del 22q11, DiGeorge syndrome (single gene etiology, autosomal dominant)	50	Truncus arteriosus, TOF, ventricular septal defect

Author

Prema Ramaswamy, MD Associate Professor of Clinical Pediatrics, New York University; Adjunct Associate Clinical Professor of Pediatrics, St George’s University School of Medicine; Co-Director of Pediatric Cardiology, Maimonides Infants and Children's Hospital of Brooklyn, Lutheran Medical Center, and Coney Island Hospital

Prema Ramaswamy, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology

Disclosure: Nothing to disclose.

Coauthor(s)

Kuruchi Srinivasan, MD Consulting Staff, Department of Internal Medicine, Nazareth Hospital

Kuruchi Srinivasan, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine, American Medical Association

Disclosure: Nothing to disclose.

Chief Editor

Howard S Weber, MD, FSCAI Professor of Pediatrics, Section of Pediatric Cardiology, Pennsylvania State University College of Medicine; Director of Interventional Pediatric Cardiology, Penn State Hershey Children's Hospital

Howard S Weber, MD, FSCAI is a member of the following medical societies: Society for Cardiovascular Angiography and Interventions

Disclosure: Received income in an amount equal to or greater than $250 from: St. Jude Medical .

Acknowledgements

Patturajah Anbumani, MD, MBBS, MS, MCh Associate Medical Director, Best Medical Care; Former Associate Medical Director, Jeanes Hospital, Temple University Health System; Former Adjunct Clinical Assistant Professor, New York College of Osteopathic Medicine; Former Clinical Assistant Professor, Department of Medicine, State University of New York-Downstate

Patturajah Anbumani, MD, MBBS, MS, MCh is a member of the following medical societies: American College of Physicians, American Medical Association, and American Medical Women's Association