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

Roger H. Clinical researches on the congenital communication of the two sides of the heart by failure of occlusion of the interventricular septum. Bull de l' Acad de Med. 1879. 8:1074.
Wood P. The Eisenmenger syndrome or pulmonary hypertension with reversed central shunt. Br Med J. 1958 Sep 27. 2(5099):755-62. [Medline].
Heath D, Edwards JE. The pathology of hypertensive pulmonary vascular disease; a description of six grades of structural changes in the pulmonary arteries with special reference to congenital cardiac septal defects. Circulation. 1958 Oct. 18(4 Part 1):533-47. [Medline].
Van Praagh R, Geva T, Kreutzer J. Ventricular septal defects: how shall we describe, name and classify them?. J Am Coll Cardiol. 1989 Nov 1. 14(5):1298-9. [Medline].
Kidd L, Driscoll DJ, Gersony WM, et al. Second natural history study of congenital heart defects. Results of treatment of patients with ventricular septal defects. Circulation. 1993 Feb. 87(2 Suppl):I38-51. [Medline].
Wu MH, Wu JM, Chang CI, et al. Implication of aneurysmal transformation in isolated perimembranous ventricular septal defect. Am J Cardiol. 1993 Sep 1. 72(7):596-601. [Medline].
Wu MH, Wang JK, Lin MT, et al. Ventricular septal defect with secondary left ventricular-to-right atrial shunt is associated with a higher risk for infective endocarditis and a lower late chance of closure. Pediatrics. 2006 Feb. 117(2):e262-7. [Medline].
Rubin JD, Ferencz C, Loffredo C. Use of prescription and non-prescription drugs in pregnancy. The Baltimore-Washington Infant Study Group. J Clin Epidemiol. 1993 Jun. 46(6):581-9. [Medline].
Roguin N, Du ZD, Barak M, Nasser N, Hershkowitz S, Milgram E. High prevalence of muscular ventricular septal defect in neonates. J Am Coll Cardiol. 1995 Nov 15. 26(6):1545-8. [Medline].
Corone P, Doyon F, Gaudeau S, et al. Natural history of ventricular septal defect. A study involving 790 cases. Circulation. 1977 Jun. 55(6):908-15. [Medline].
Pongiglione G, Freedom RM, Cook D, Rowe RD. Mechanism of acquired right ventricular outflow tract obstruction in patients with ventricular septal defect: an angiocardiographic study. Am J Cardiol. 1982 Oct. 50(4):776-80. [Medline].
Zielinsky P, Rossi M, Haertel JC, et al. Subaortic fibrous ridge and ventricular septal defect: role of septal malalignment. Circulation. 1987 Jun. 75(6):1124-9. [Medline].
Patel JK, Glatz AC, Ghosh RM, et al. Intramural ventricular septal defect is a distinct clinical entity associated with postoperative morbidity in children after repair of conotruncal anomalies. Circulation. 2015 Oct 13. 132 (15):1387-94. [Medline].
Sugimoto M, Kuwata S, Kurishima C, Kim JH, Iwamoto Y, Senzaki H. Cardiac biomarkers in children with congenital heart disease. World J Pediatr. 2015 Nov. 11 (4):309-15. [Medline].
Correia Martins L, Lourenco R, Cordeiro S, et al. Catch-up growth in term and preterm infants after surgical closure of ventricular septal defect in the first year of life. Eur J Pediatr. 2015 Dec 9. [Medline].
Muller WH, Danimann JF. The treatment of certain congenital malformations of the heart by the creation of pulmonic stenosis to reduce pulmonary hypertension and excessive pulmonary blood flow; a preliminary report. Surg Gynecol Obstet. 1952 Aug. 95(2):213-9. [Medline].
Lillehei CW, Cohen M, Warden HE. The results of direct vision closure of ventricular septal defects in eight patients by means of controlled cross circulation. Surg Gynecol Obstet. 1955 Oct. 101(4):446-66. [Medline].
Barratt-Boyes BG, Neutze JM, Clarkson PM, et al. Repair of ventricular septal defect in the first two years of life using profound hypothermia-circulatory arrest techniques. Ann Surg. 1976 Sep. 184(3):376-90. [Medline].
Barratt-Boyes BG, Simpson M, Neutze JM, et al. Intracardiac surgery in neonates and infants using deep hypothermia with surface cooling and limited cardiopulmonary bypass. Circulation. 1971 May. 43(5 Suppl):I25-30. [Medline].
Castaneda AR, Lamberti J, Sade RM, et al. Open-heart surgery during the first three months of life. J Thorac Cardiovasc Surg. 1974 Nov. 68(5):719-31. [Medline].
Fu YC, Bass J, Amin Z, et al. Transcatheter closure of perimembranous ventricular septal defects using the new Amplatzer membranous VSD occluder: results of the U.S. phase I trial. J Am Coll Cardiol. 2006 Jan 17. 47(2):319-25. [Medline].
Yip WC, Zimmerman F, Hijazi ZM. Heart block and empirical therapy after transcatheter closure of perimembranous ventricular septal defect. Catheter Cardiovasc Interv. 2005 Nov. 66(3):436-41. [Medline].
Predescu D, Chaturvedi RR, Friedberg MK, Benson LN, Ozawa A, Lee KJ. Complete heart block associated with device closure of perimembranous ventricular septal defects. J Thorac Cardiovasc Surg. 2008 Nov. 136(5):1223-8. [Medline].
Szkutnik M, Kusa J, Bialkowski J. Percutaneous closure of perimembranous ventricular septal defects with Amplatzer occluders--a single centre experience. Kardiol Pol. 2008 Sep. 66(9):941-7; discussion 948-9. [Medline].
Schmitt KR, Fedarava K, Justus G, et al. Hypothermia during cardiopulmonary bypass increases need for inotropic support but does not impact inflammation in children undergoing surgical ventricular septal defect closure. Artif Organs. 2015 Nov 19. [Medline].

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: Abbott 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