Diagnostic Considerations

Important considerations

Medicolegal pitfalls in caring for patients with double outlet right ventricle and transposition of the great arteries are similar to those for any patient with congenital heart disease (CHD).

Failure to make the correct diagnosis is of paramount importance. The correct treatment plan can be determined only if all anatomic details are known. Misdiagnosis can lead to inappropriate care.

Another issue is surgery. Because most of these patients do well when medical/surgical care is administered at a center with considerable experience in caring for infants with CHD, referral to such a center provides the best opportunity for a good long-term outcome.

The physician must be familiar with the possible complications that may result from surgery and be able to treat complications resulting from surgery appropriately.

Prenatal diagnosis can be made with detail in most cases of DORV^[11]and was found to be useful in providing parents adequate counseling regarding the type of surgery required and the chances of survival of the fetus with DORV (survival is poor in patients with extracardiac or chromosomal anomalies).^[12]

Special concerns

Subaortic or subpulmonary VSD without PS

If left unrepaired, these infants develop congestive heart failure (CHF) from pulmonary overcirculation, which evolves into pulmonary vascular obstructive disease.

Subaortic or subpulmonary VSD with PS

If left untreated, complications develop, including cyanosis (leading to polycythemia) and pardoxical embolism, which can lead to stroke.

Differential Diagnoses

Workup

Derbent M, Yilmaz Z, Baltaci V, et al. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A. 2003 Jan 15. 116(2):129-35. [QxMD MEDLINE Link].
Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998 Aug. 32(2):492-8. [QxMD MEDLINE Link].
Sergi C, Serpi M, Muller-Navia J, et al. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. Pathologica. 1999 Jun. 91(3):166-72. [QxMD MEDLINE Link].
Siman CM, Gittenberger-De Groot AC, Wisse B, Eriksson UJ. Malformations in offspring of diabetic rats: morphometric analysis of neural crest-derived organs and effects of maternal vitamin E treatment. Teratology. 2000 May. 61(5):355-67. [QxMD MEDLINE Link].
Moazzen H, Lu X, Ma NL, et al. N-Acetylcysteine prevents congenital heart defects induced by pregestational diabetes. Cardiovasc Diabetol. 2014 Feb 18. 13(1):46. [QxMD MEDLINE Link]. [Full Text].
French VM, van de Laar IM, Wessels MW, et al. NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012 Jun 8. 110(12):1564-74. [QxMD MEDLINE Link].
Obler D, Juraszek AL, Smoot LB, Natowicz MR. Double outlet right ventricle: aetiologies and associations. J Med Genet. 2008 Aug. 45(8):481-97. [QxMD MEDLINE Link].
Shuler CO, Black GB, Jerrell JM. Population-based treated prevalence of congenital heart disease in a pediatric cohort. Pediatr Cardiol. 2013 Mar. 34(3):606-11. [QxMD MEDLINE Link].
Rao PS, Sissman NJ. Spontaneous closure of physiologically advantageous ventricular septal defects. Circulation. 1971 Jan. 43(1):83-90. [QxMD MEDLINE Link].
Soszyn N, Fricke TA, Wheaton GR, et al. Outcomes of the arterial switch operation in patients with Taussig-Bing anomaly. Ann Thorac Surg. 2011 Aug. 92(2):673-9. [QxMD MEDLINE Link].
Kim N, Friedberg MK, Silverman NH. Diagnosis and prognosis of fetuses with double outlet right ventricle. Prenat Diagn. 2006 Aug. 26(8):740-5. [QxMD MEDLINE Link].
Gelehrter S, Owens ST, Russell MW, van der Velde ME, Gomez-Fifer C. Accuracy of the fetal echocardiogram in double-outlet right ventricle. Congenit Heart Dis. 2007 Jan. 2(1):32-7. [QxMD MEDLINE Link].
Tometzki AJ, Suda K, Kohl T, et al. Accuracy of prenatal echocardiographic diagnosis and prognosis of fetuses with conotruncal anomalies. J Am Coll Cardiol. 1999 May. 33(6):1696-701. [QxMD MEDLINE Link].
Chen GZ, Huang GY, Liang XC, et al. Methodological study on real-time three-dimensional echo-cardiography and its application in the diagnosis of complex congenital heart disease. Chin Med J (Engl). 2006 Jul 20. 119(14):1190-4. [QxMD MEDLINE Link].
Yu FF, Lu B, Gao Y, et al. Congenital anomalies of coronary arteries in complex congenital heart disease: diagnosis and analysis with dual-source CT. J Cardiovasc Comput Tomogr. 2013 Nov-Dec. 7(6):383-90. [QxMD MEDLINE Link].
Rao PS, Wilson AD, Thapar MK, Brais M. Balloon pulmonary valvuloplasty in the management of cyanotic congenital heart defects. Cathet Cardiovasc Diagn. 1992 Jan. 25(1):16-24. [QxMD MEDLINE Link].
Rao PS. Pulmonary valve disease: pulmonary valve in cyanotic heart defects with pulmonary oligemia. Sievert H, Qureshi SA, Wilson N, Hijazi ZM, eds. Interventions in Structural, Valvular and Congenital Heart Disease. 2nd ed. Boca Raton, Florida: CRC Press; 2015. 297-308.
Raisky O, Vouhe PR. Pitfalls in repair of conotruncal anomalies. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2013. 16(1):7-12. [QxMD MEDLINE Link].
Stoica S, Carpenter E, Campbell D, et al. Morbidity of the arterial switch operation. Ann Thorac Surg. 2012 Jun. 93(6):1977-83. [QxMD MEDLINE Link]. [Full Text].
Devine WA, Webber SA, Anderson RH. Congenitally malformed hearts from a population of children undergoing cardiac transplantation: comments on sequential segmental analysis and dissection. Pediatr Dev Pathol. 2000 Mar-Apr. 3(2):140-54. [QxMD MEDLINE Link].
Bajolle F, Zaffran S, Kelly RG, et al. Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. Circ Res. 2006 Feb 17. 98(3):421-8. [QxMD MEDLINE Link].
Baschat AA, Gembruch U, Knopfle G, Hansmann M. First-trimester fetal heart block: a marker for cardiac anomaly. Ultrasound Obstet Gynecol. 1999 Nov. 14(5):311-4. [QxMD MEDLINE Link].
Beekmana RP, Roest AA, Helbing WA, et al. Spin echo MRI in the evaluation of hearts with a double outlet right ventricle: usefulness and limitations. Magn Reson Imaging. 2000 Apr. 18(3):245-53. [QxMD MEDLINE Link].
Benito Bartolome F, Sanchez Fernandez-Bernal C, Torres Feced V. [Catheter ablation of accessory pathways in patients with congenital cardiopathies]. Rev Esp Cardiol. 1999 Nov. 52(11):1028-31. [QxMD MEDLINE Link].
Black MD, Shukla V, Freedom RM. Direct neonatal ventriculo-arterial connections (REV): early results and future implications. Ann Thorac Surg. 1999 Apr. 67(4):1137-41. [QxMD MEDLINE Link].
Blume ED, Altmann K, Mayer JE, et al. Evolution of risk factors influencing early mortality of the arterial switch operation. J Am Coll Cardiol. 1999 May. 33(6):1702-9. [QxMD MEDLINE Link].
Bosi G, Scorrano M, Tosato G, et al. The Italian Multicentric Study on Epidemiology of Congenital Heart Disease: first step of the analysis. Working Party of the Italian Society of Pediatric Cardiology. Cardiol Young. 1999 May. 9(3):291-9. [QxMD MEDLINE Link].
Breymann T, Boethig D, Goerg R, Thies WR. The Contegra bovine valved jugular vein conduit for pediatric RVOT reconstruction: 4 years experience with 108 patients. J Card Surg. 2004 Sep-Oct. 19(5):426-31. [QxMD MEDLINE Link].
Casaldaliga J, Girona JM, Sanchez C, et al. [Doppler echocardiography in the postoperative assessment of the arterial switch in the repair of transposition of the great arteries and double outlet right ventricle]. Rev Esp Cardiol. 1996 Feb. 49(2):117-23. [QxMD MEDLINE Link].
Castaneda AR, Jonas RA, Mayer JE Jr. Double-outlet right ventricle. Castaneda AR, Jonas RA, Mayer JE Jr, Hanley FL, eds. Cardiac Surgery of the Neonate and Infant. Philadelphia, PA: WB Saunders Co; 1994. 445-59.
Chaoui R, Korner H, Bommer C, et al. [Prenatal diagnosis of heart defects and associated chromosomal aberrations]. Ultraschall Med. 1999 Oct. 20(5):177-84. [QxMD MEDLINE Link].
Dearani JA, Danielson GK, Puga FJ, et al. Late follow-up of 1095 patients undergoing operation for complex congenital heart disease utilizing pulmonary ventricle to pulmonary artery conduits. Ann Thorac Surg. 2003 Feb. 75(2):399-410; discussion 410-1. [QxMD MEDLINE Link].
Digilio MC, Marino B, Ammirati A, et al. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet. 1999 Jun 4. 84(4):350-6. [QxMD MEDLINE Link].
Donnelly LF, Higgins CB. MR imaging of conotruncal abnormalities. AJR Am J Roentgenol. 1996 Apr. 166(4):925-8. [QxMD MEDLINE Link].
Franco D, Campione M. The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends Cardiovasc Med. 2003 May. 13(4):157-63. [QxMD MEDLINE Link].
Gober V, Berdat P, Pavlovic M, et al. Adverse mid-term outcome following RVOT reconstruction using the Contegra valved bovine jugular vein. Ann Thorac Surg. 2005 Feb. 79(2):625-31. [QxMD MEDLINE Link].
Goncalves LF, Nien JK, Espinoza J, et al. What does 2-dimensional imaging add to 3- and 4-dimensional obstetric ultrasonography?. J Ultrasound Med. 2006 Jun. 25(6):691-9. [QxMD MEDLINE Link]. [Full Text].
Gucer S, Ince T, Kale G, et al. Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. Turk J Pediatr. 2005 Apr-Jun. 47(2):159-66. [QxMD MEDLINE Link].
Haas F, Wottke M, Poppert H, Meisner H. Long-term survival and functional follow-up in patients after the arterial switch operation. Ann Thorac Surg. 1999 Nov. 68(5):1692-7. [QxMD MEDLINE Link].
Hagler DJ. Double-outlet right ventricle. Moss AJ, Adams FH, Emmanouilides GC. Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult. 5th ed. Baltimore: Williams & Wilkins; 1995. Vol 2: 1246-70.
Kleinert S, Sano T, Weintraub RG, et al. Anatomic features and surgical strategies in double-outlet right ventricle. Circulation. 1997 Aug 19. 96(4):1233-9. [QxMD MEDLINE Link].
Lee Y, Song AJ, Baker R, et al. Jumonji, a nuclear protein that is necessary for normal heart development. Circ Res. 2000 May 12. 86(9):932-8. [QxMD MEDLINE Link]. [Full Text].
Napoleone RM, Varela M, Andersson HC. Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature. Am J Med Genet. 1997 Dec 19. 73(3):330-3. [QxMD MEDLINE Link].
Niezen RA, Beekman RP, Helbing WA, et al. Double outlet right ventricle assessed with magnetic resonance imaging. Int J Card Imaging. 1999 Aug. 15(4):323-9. [QxMD MEDLINE Link].
Ohuchi H, Hiraumi Y, Tasato H, et al. Comparison of the right and left ventricle as a systemic ventricle during exercise in patients with congenital heart disease. Am Heart J. 1999 Jun. 137(6):1185-94. [QxMD MEDLINE Link].
Pretre R, Ye Q, Fasnacht M, et al. Recent experience with the arterial switch operation in transposition of the great arteries. Schweiz Med Wochenschr. 1999 Oct 9. 129(40):1443-9. [QxMD MEDLINE Link].
Reddy VM, Hanley FL. Cardiac surgery in infants with very low birth weight. Semin Pediatr Surg. 2000 May. 9(2):91-5. [QxMD MEDLINE Link].
Scalzo G, Cavallaro A, Pulvirenti A, et al. [Physiopathologic findings and surgical treatment in transposition of great vessels: our experience]. Pediatr Med Chir. 1998 Nov-Dec. 20(6):377-80. [QxMD MEDLINE Link].
Serraf A, Nakamura T, Lacour-Gayet F, et al. Surgical approaches for double-outlet right ventricle or transposition of the great arteries associated with straddling atrioventricular valves. J Thorac Cardiovasc Surg. 1996 Mar. 111(3):527-35. [QxMD MEDLINE Link].
Silka MJ. Double-outlet ventricles. Garson A Jr, Bricker TJ, Fisher DJ, Neish SR, eds. The Science and Practice of Pediatric Cardiology. 2nd ed. Baltimore, MD: Williams & Wilkins; 1997. Vol 2: 1505-23.
Sivanandam S, Glickstein JS, Printz BF, et al. Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies. Am J Perinatol. 2006 May. 23(4):241-5. [QxMD MEDLINE Link].
Smith RS, Comstock CH, Kirk JS, et al. Double-outlet right ventricle: an antenatal diagnostic dilemma. Ultrasound Obstet Gynecol. 1999 Nov. 14(5):315-9. [QxMD MEDLINE Link].
Snider AR, Ritter SB, Serwer Ga. Abnormalities of ventriculoarterial connection. Snider AR, Ritter SB, Serwer Ga, eds. Echocardiography in Pediatric Heart Disease. 2nd ed. St. Louis, Mo: Mosby-Year Book; 1997. 323-42.
Sorensen TS, Korperich H, Greil GF, et al. Operator-independent isotropic three-dimensional magnetic resonance imaging for morphology in congenital heart disease: a validation study. Circulation. 2004 Jul 13. 110(2):163-9. [QxMD MEDLINE Link]. [Full Text].
Tanner K, Sabrine N, Wren C. Cardiovascular malformations among preterm infants. Pediatrics. 2005 Dec. 116(6):e833-8. [QxMD MEDLINE Link].
Tchervenkov CI, Tahta SA, Cecere R, Beland MJ. Single-stage arterial switch with aortic arch enlargement for transposition complexes with aortic arch obstruction. Ann Thorac Surg. 1997 Dec. 64(6):1776-81. [QxMD MEDLINE Link].
Walters HL 3rd, Mavroudis C, Tchervenkov CI, et al. Congenital Heart Surgery Nomenclature and Database Project: double outlet right ventricle. Ann Thorac Surg. 2000 Apr. 69(4 Suppl):S249-63. [QxMD MEDLINE Link].
Walters HL, Pacifico AD. Double outlet ventricles. Mavroudis C, Backer CL, eds. Pediatric Cardiac Surgery. 3rd ed. Stamford, CT: Appleton & Lange; 1994. 305-38.
Yoo SJ, Kim YM, Choe YH. Magnetic resonance imaging of complex congenital heart disease. Int J Card Imaging. 1999 Apr. 15(2):151-60. [QxMD MEDLINE Link].
Wang C, Chen S, Zhang H, et al. Anatomical classifications of the coronary arteries in complete transposition of the great arteries and double outlet right ventricle with subpulmonary ventricular septal defect. Thorac Cardiovasc Surg. 2017 Jan. 65(1):26-30. [QxMD MEDLINE Link].
Gottschalk I, Abel JS, Menzel T, et al. Prenatal diagnosis, associated findings and postnatal outcome of fetuses with double outlet right ventricle (DORV) in a single center. J Perinat Med. 2018 Dec 20. [QxMD MEDLINE Link].
Samyn S, Morissens M, Sanoussi A, Rodriguez JC. Implantation of a stent in a stenotic conduit between the left ventricle and aorta in a patient undergone surgery for a double outlet right ventricle. J Transl Int Med. 2018 Dec. 6(4):194-7. [QxMD MEDLINE Link]. [Full Text].
Atik E, Barreto AC, Binotto MA. Case 1 / 2019 - Natural evolution of double outlet right ventricle with noncommitted ventricular septal defect and pulmonary stenosis in a 28-year-old asymptomatic woman. Arq Bras Cardiol. 2019 Jan. 112(1):107-9. [QxMD MEDLINE Link]. [Full Text].
El-Asmar JM, Degheili JA, Al-Halabi E, Sklansky M. Prenatally diagnosed ventricular inversion, restrictive ventricular septal defect, pulmonary stenosis, hypertensive left ventricle and double outlet right ventricle: case report and literature review. Pediatr Cardiol. 2019 Jan. 40(1):234-6. [QxMD MEDLINE Link].
Ahmed M, Reyes K, Brock M, Bleiweis M. Single-stage repair of double outlet right ventricle with subpulmonic ventricular septal defect (Taussig-Bing anomaly). Multimed Man Cardiothorac Surg. 2018 Jan 25. 2018:[QxMD MEDLINE Link].
Meng H, Pang KJ, Li SJ, et al. Biventricular repair of double outlet right ventricle: preoperative echocardiography and surgical outcomes. World J Pediatr Congenit Heart Surg. 2017 May. 8(3):354-60. [QxMD MEDLINE Link].
Te ALD, Chung FP, Lin CY, Prabhu A, Lee PC, Chen SA. Catheter ablation of peri-conduit ventricular tachycardia in a patient with Rastelli procedure for double outlet right ventricle with malposition of great arteries. Korean Circ J. 2017 Jul. 47(4):534-5. [QxMD MEDLINE Link]. [Full Text].
Villemain O, Belli E, Ladouceur M, et al. Impact of anatomic characteristics and initial biventricular surgical strategy on outcomes in various forms of double-outlet right ventricle. J Thorac Cardiovasc Surg. 2016 Sep. 152(3):698-706.e3. [QxMD MEDLINE Link]. [Full Text].

Media Gallery

Double outlet right ventricle (DORV) with transposition of the great arteries accounts for 26% of cases of DORV. The aorta (AO) is anterior and to the right of the pulmonary artery (PA), and both arteries arise from the right ventricle (RV). The only outflow from the left ventricle (LV) is a ventricular septal defect (VSD), which diverts blood toward the RV. Pulmonary veins drain into the left atrium (LA) after blood has been oxygenated in the lungs (L). Systemic venous return is to the right atrium (RA).
This is an angiogram obtained during catheterization of a patient with double outlet right ventricle (DORV) with transposition of the great arteries. Injection of contrast though the catheter (arrow) into the left ventricle (LV) shows that blood is directed toward the right ventricle (RV) through a remote or doubly committed ventricular septal defect (VSD). The aorta (AO) is anterior to the pulmonary artery (PA) and both clearly arise from the RV.
This is an angiogram obtained during catheterization of a patient with double outlet right ventricle (DORV) with transposition of the great arteries (see Media file 2). Blood fills the aorta (AO) and pulmonary artery (PA) almost simultaneously, which is another indicator of a remote or doubly committed ventricular septal defect (VSD) (curved arrow). LV indicates the left ventricle, RV indicates the right ventricle, and the small arrow to the left indicates the catheter.

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Author

M Silvana Horenstein, MD Assistant Professor, Department of Pediatrics, University of Texas Medical School at Houston; Medical Doctor Consultant, Legacy Department, Best Doctors, Inc

M Silvana Horenstein, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Julian M Stewart, MD, PhD Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College

Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Autonomic Society, American Physiological Society

Disclosure: Received research grant from: Lundbeck Pharmaceuticals<br/>Received grant/research funds from Lundbeck Pharmaceuticals for none.

Chief Editor

Syamasundar Rao Patnana, MD Professor of Pediatrics and Medicine, Division of Cardiology, Emeritus Chief of Pediatric Cardiology, University of Texas Medical School at Houston and Children's Memorial Hermann Hospital

Syamasundar Rao Patnana, MD is a member of the following medical societies: American Academy of Pediatrics, American Pediatric Society, American College of Cardiology, American Heart Association, Society for Cardiovascular Angiography and Interventions, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Juan Carlos Alejos, MD Clinical Professor, Department of Pediatrics, Division of Cardiology, University of California, Los Angeles, David Geffen School of Medicine

Juan Carlos Alejos, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, International Society for Heart and Lung Transplantation

Disclosure: Received honoraria from Actelion for speaking and teaching.

Acknowledgements

Michael L Epstein, MD Director, Division of Pediatric Cardiology, Department of Pediatrics, Children's Hospital of Michigan; Professor, Wayne State University School of Medicine

Michael L Epstein, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association

Disclosure: Nothing to disclose.