Double Outlet Right Ventricle, With Transposition Clinical Presentation

  • Author: M Silvana Horenstein, MD; Chief Editor: Steven R Neish, MD, SM   more...
 
Updated: Aug 11, 2010
 

History

History of fetal bradycardia heart block during the first trimester of pregnancy has been associated with double outlet right ventricle (DORV), as opposed to autoimmune causes of fetal heart block, which occur after the second and third trimesters. Fetal heart block can be diagnosed ultrasonographically depending on the subtype of DORV (eg, with or without transposition of the great arteries); clinical history differs. In patients with DORV and transposition of the great arteries, the clinical presentation depends on the location of the ventricular septal defect (VSD) and the presence of pulmonary valve stenosis (PS), the degree of PS, or both.

If the VSD is subpulmonic, the physiology resembles that of transposition of the great arteries with VSD. Patients with this anatomy usually present in the newborn period or within the first few weeks of life with cyanosis and signs of pulmonary overcirculation.

If the VSD is subaortic, the patient may be only mildly cyanotic and may present primarily with pulmonary overcirculation at 3-6 weeks of life when pulmonary vascular resistance drops. If PS is present, which is often the case in DORV with subaortic VSD, the degree of PS greatly affects clinical presentation.

If PS is mild or moderate, the patient may present with mild cyanosis and little or no pulmonary overcirculation. If PS is severe, clinical presentation resembles that of tetralogy of Fallot (TOF). Cyanosis from diminished pulmonary blood flow (PBF) is likely to be the major clinical feature.

In patients with DORV and transposition of the great arteries (both uncommon lesions), the VSD may be doubly committed or remote from the great arteries. If the VSD is doubly committed, the conus septum is deficient and the VSD usually lies above the crista supraventricularis, closely related to both semilunar valves. Clinical presentation is often that of DORV with a subpulmonic VSD, although the patient may have slightly higher systemic oxygen saturation.

In DORV with transposition of the great arteries and remote VSD, many variables determine clinical presentation. If the VSD is remote from both semilunar valves, it is often part of an AV canal-type defect, in which case many other anomalies are likely.

Alternatively, multiple muscular VSDs may be remote from the semilunar valves. Clinical presentation depends on factors such as the location of the VSDs, the presence or absence of PS (right ventricular outflow tract obstruction), and the direction of streaming of blood flow through VSDs.

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Physical

Physical findings vary, depending on the location of the VSD and the presence or absence of PS.

With a subaortic VSD and no PS, cyanosis is mild or absent. PBF is increased, thereby producing congestive heart failure (CHF). The precordium is hyperactive with a loud second heart sound, which may appear to be single. Harsh regurgitant systolic murmur is heard as pulmonary vascular resistance decreases. Clinically, these patients resemble those with a large VSD.

In DORV with subaortic VSD and PS, physical findings depend on the degree of PS. If PS is mild, little cyanosis and only mild CHF may be present. These patients present with a murmur from PS (systolic ejection murmur), from the VSD (regurgitant murmur), or both. If PS is moderate or severe, cyanosis is prominent because of decreased PBF (resembling TOF). If uncorrected, cyanosis leads to late findings such as polycythemia and digital clubbing.

In those patients with subpulmonic VSD (PS is rare in these patients), PBF increases as vascular resistance falls. These patients present similarly to those with transposition of the great arteries and VSD. Cyanosis is prominent early, and pulmonary overcirculation develops. Failure to thrive is likely to develop if treatment is not instituted. The second heart sound is loud and possibly single, and a regurgitant systolic murmur develops. If increased pulmonary vascular resistance occurs, signs of CHF diminish and the murmur decreases. An ejection click may appear along with a diastolic murmur of pulmonary valve insufficiency (late findings).

Patients with doubly committed VSD also present similarly to those with transposition of the great arteries and VSD. Cyanosis may be mild. Signs of CHF, including tachypnea, tachycardia, and hepatomegaly, lead to failure to thrive.

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Causes

DORV is thought to be the result of a malformation in the outlet portion of the embryonic ventricular loop at 3-4 weeks' gestation. Although mostly sporadic, familial cases have been reported.

Fluorescence in situ hybridization (FISH) analysis has shown deletions in the 22q11.2 region in certain individuals with TOF, DORV, transposition of the great arteries, and VSD associated with other congenital heart disease (CHD).[1, 2, 3] As a matter of fact, DORV may be part of complex CHD in patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly–face syndrome.

DORV has also been associated with trisomies 13 and 18 and tetrasomy 8p.

DORV has also been reported in patients with mutations in human cardiac transcription factor NKX2.5.

DORV and truncus arteriosus occur with a higher incidence in the offspring of mothers with diabetes mellitus than in the general population. Teratogenic mechanisms involved are obscure; however, in pregnant diabetic rats, antioxidant supplementation with vitamin E reduced the severity of malformations in their offspring.[4]

DORV has been reported to occur in mouse embryos homozygous for the JMJ mutation, which affects the nuclear protein jmj coded by chamber-specific genes.

Studies using animal models described a transcription factor that plays a critical role in directing cardiac asymmetric morphogenesis, known as Pitx2. Specifically, ectopic Pitx2c expression in the developing myocardium was found to correlate with the development of DORV. Whereas loss of function of the Pitx2 caused atrial isomerism, double inlet left ventricle, transposition of the great arteries, persistent truncus arteriosus, and abnormal aortic arch remodeling.

Most recently, hearts with persistent truncus arteriosus, DORV, and transposition of the great arteries, have been postulated to have rotation of the myocardial wall of the outflow tract that is arrested or fails to initiate.

In synthesis, the pathogenesis of DORV is currently believed to include impairment of neural crest–derivative migration and impairment of normal cardiac situs and looping.[5]

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Contributor Information and Disclosures
Author

M Silvana Horenstein, MD  Assistant Professor, Department of Pediatrics, University of Texas Medical School 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, and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

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.

Specialty Editor Board

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, and International Society for Heart and Lung Transplantation

Disclosure: Actelion Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

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

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Steven R Neish, MD, SM  Director of Pediatric Cardiology Fellowship Program, Associate Professor, Department of Pediatrics, Baylor College of Medicine

Steven R Neish, MD, SM is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Heart Association

Disclosure: Nothing to disclose.

References

  1. 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. Jan 15 2003;116(2):129-35. [Medline].

  2. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. Aug 1998;32(2):492-8. [Medline].

  3. 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. Jun 1999;91(3):166-72. [Medline].

  4. 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. May 2000;61(5):355-67. [Medline].

  5. Obler D, Juraszek A, Smoot LB, Natowicz MR. Double Outlet Right Ventricle: Aetiologies and Associations. J Med Genet. May 2 2008;[Medline].

  6. Tometzki AJ, Suda K, Kohl T, et al. Accuracy of prenatal echocardiographic diagnosis and prognosis of fetuses with conotruncal anomalies. J Am Coll Cardiol. May 1999;33(6):1696-701. [Medline].

  7. 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). Jul 20 2006;119(14):1190-4. [Medline].

  8. 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. Mar-Apr 2000;3(2):140-54. [Medline].

  9. Kim N, Friedberg MK, Silverman NH. Diagnosis and prognosis of fetuses with double outlet right ventricle. Prenat Diagn. Aug 2006;26(8):740-5. [Medline].

  10. 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. Jan 2007;2(1):32-7. [Medline].

  11. 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. Feb 17 2006;98(3):421-8. [Medline].

  12. Baschat AA, Gembruch U, Knopfle G, Hansmann M. First-trimester fetal heart block: a marker for cardiac anomaly. Ultrasound Obstet Gynecol. Nov 1999;14(5):311-4. [Medline].

  13. 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. Apr 2000;18(3):245-53. [Medline].

  14. Benito Bartolome F, Sanchez Fernandez-Bernal C, Torres Feced V. [Catheter ablation of accessory pathways in patients with congenital cardiopathies]. Rev Esp Cardiol. Nov 1999;52(11):1028-31. [Medline].

  15. Black MD, Shukla V, Freedom RM. Direct neonatal ventriculo-arterial connections (REV): early results and future implications. Ann Thorac Surg. Apr 1999;67(4):1137-41. [Medline].

  16. Blume ED, Altmann K, Mayer JE, et al. Evolution of risk factors influencing early mortality of the arterial switch operation. J Am Coll Cardiol. May 1999;33(6):1702-9. [Medline].

  17. 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. May 1999;9(3):291-9. [Medline].

  18. 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. Sep-Oct 2004;19(5):426-31. [Medline].

  19. 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. Feb 1996;49(2):117-23. [Medline].

  20. Casta AR, Jonas RA, Mayer JE. Double-Outlet Right Ventricle. In: Cardiac Surgery of the Neonate and Infant. Philadelphia, PA: WB Saunders Co; 1994:445-59.

  21. Chaoui R, Korner H, Bommer C, et al. [Prenatal diagnosis of heart defects and associated chromosomal aberrations]. Ultraschall Med. Oct 1999;20(5):177-84. [Medline].

  22. 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. Feb 2003;75(2):399-410; discussion 410-1. [Medline].

  23. 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. Jun 4 1999;84(4):350-6. [Medline].

  24. Donnelly LF, Higgins CB. MR imaging of conotruncal abnormalities. AJR Am J Roentgenol. Apr 1996;166(4):925-8. [Medline].

  25. Franco D, Campione M. The role of Pitx2 during cardiac development. Linking left-right signaling and congenital heart diseases. Trends Cardiovasc Med. May 2003;13(4):157-63. [Medline].

  26. 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. Feb 2005;79(2):625-31. [Medline].

  27. Gonçalves LF, Nien JK, Espinoza J, Kusanovic JP, Lee W, Swope B, et al. What does 2-dimensional imaging add to 3- and 4-dimensional obstetric ultrasonography?. J Ultrasound Med. Jun 2006;25(6):691-9. [Medline]. [Full Text].

  28. Gucer S, Ince T, Kale G, et al. Noncardiac malformations in congenital heart disease: a retrospective analysis of 305 pediatric autopsies. Turk J Pediatr. Apr-Jun 2005;47(2):159-66. [Medline].

  29. 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. Nov 1999;68(5):1692-7. [Medline].

  30. Hagler DJ. Double-Outlet Right Ventricle. In: Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adult. Vol 2. Baltimore, MD: Williams and Wilkins; 1995:1246-70.

  31. Kleinert S, Sano T, Weintraub RG, et al. Anatomic features and surgical strategies in double-outlet right ventricle. Circulation. Aug 19 1997;96(4):1233-9. [Medline].

  32. Lee Y, Song AJ, Baker R, et al. Jumonji, a nuclear protein that is necessary for normal heart development. Circ Res. May 12 2000;86(9):932-8. [Medline]. [Full Text].

  33. 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. Dec 19 1997;73(3):330-3. [Medline].

  34. Niezen RA, Beekman RP, Helbing WA, et al. Double outlet right ventricle assessed with magnetic resonance imaging. Int J Card Imaging. Aug 1999;15(4):323-9. [Medline].

  35. 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. Jun 1999;137(6):1185-94. [Medline].

  36. Pretre R, Ye Q, Fasnacht M, et al. Recent experience with the arterial switch operation in transposition of the great arteries. Schweiz Med Wochenschr. Oct 9 1999;129(40):1443-9. [Medline].

  37. Reddy VM, Hanley FL. Cardiac surgery in infants with very low birth weight. Semin Pediatr Surg. May 2000;9(2):91-5. [Medline].

  38. Scalzo G, Cavallaro A, Pulvirenti A, et al. [Physiopathologic findings and surgical treatment in transposition of great vessels: our experience]. Pediatr Med Chir. Nov-Dec 1998;20(6):377-80. [Medline].

  39. 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. Mar 1996;111(3):527-35. [Medline].

  40. Silka MJ. Double-Outlet Ventricles. In: The Science and Practice of Pediatric Cardiology. Vol 2. Baltimore, MD: Williams & Wilkins; 1997:1505-23.

  41. Sivanandam S, Glickstein JS, Printz BF, et al. Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies. Am J Perinatol. May 2006;23(4):241-5. [Medline].

  42. Smith RS, Comstock CH, Kirk JS, et al. Double-outlet right ventricle: an antenatal diagnostic dilemma. Ultrasound Obstet Gynecol. Nov 1999;14(5):315-9. [Medline].

  43. Snider AR. Abnormalities of Ventriculoarterial Connection. In: Echocardiography in Pediatric Heart Disease. St. Louis, Mo: Mosby-Year Book; 1997:323-42.

  44. 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. Jul 13 2004;110(2):163-9. [Medline]. [Full Text].

  45. [Best Evidence] Tanner K, Sabrine N, Wren C. Cardiovascular malformations among preterm infants. Pediatrics. Dec 2005;116(6):e833-8. [Medline].

  46. 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. Dec 1997;64(6):1776-81. [Medline].

  47. Walters HL 3rd, Mavroudis C, Tchervenkov CI, et al. Congenital Heart Surgery Nomenclature and Database Project: double outlet right ventricle. Ann Thorac Surg. Apr 2000;69(4 Suppl):S249-63. [Medline].

  48. Walters HL, Pacifico AD. Double Outlet Ventricles. In: Mavroudis C, Backer CL, eds. Pediatric Cardiac Surgery. 3rd ed. Stamford, CT: Appleton & Lange; 1994:305-38.

  49. Yoo SJ, Kim YM, Choe YH. Magnetic resonance imaging of complex congenital heart disease. Int J Card Imaging. Apr 1999;15(2):151-60. [Medline].

 
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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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