Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Double Outlet Right Ventricle With Normally Related Great Arteries Clinical Presentation

  • Author: Maggie L Likes, MD; Chief Editor: Stuart Berger, MD  more...
 
Updated: Jan 08, 2016
 

History

History of double outlet right ventricle (DORV) varies based on type of anatomy.

  • Subaortic or subpulmonary ventricular septal defect (VSD) with pulmonary stenosis
    • These children present with histories similar to those of children with tetralogy of Fallot.
    • If pulmonary oligemia is present, severe cyanosis is seen in the newborn period, and the condition is recognized early.
    • Beyond the newborn period, cyanosis may be accompanied by hypercyanotic spells, polycythemia, and failure to thrive.
    • These children are less likely to develop pulmonary obstructive vascular disease due to limitation of blood flow and pressure by pulmonary stenosis.
  • Subaortic VSD without pulmonary stenosis
    • These children present with histories similar to those of children with a large VSD and pulmonary hypertension.
    • Oxygenation is relatively normal, and patients usually present with congestive heart failure (CHF) and failure to thrive.
    • Referral usually occurs later unless associated left heart lesions are present.
    • These children may have associated chromosomal abnormalities such as trisomy 13 or 18.
    • These children are likely to acquire pulmonary obstructive vascular disease without surgical repair, especially if the VSD is large.
  • Subpulmonary VSD without pulmonary stenosis
    • These children present with histories similar to those of children with transposition of the great arteries.
    • Cyanosis varies, with oxygen saturations ranging from 40-80%.
    • If associated coarctation or interruption of the aorta is present, earlier onset of CHF can be expected to result in earlier referral.
Next

Physical

Physical examination findings vary with the anatomy.

  • Subaortic or subpulmonary VSD with pulmonary stenosis: Physical examination reveals prominent right ventricular impulse, systolic thrill at left upper sternal border, harsh systolic murmur, and a single second heart sound.
  • Subaortic VSD without pulmonary stenosis
    • Physical examination reveals hyperdynamic precordial impulse, a grade III-IV/VI holosystolic murmur, a loud pulmonary component of the second heart sound, an apical diastolic rumble, and, sometimes, a palpable thrill.
    • Once these children acquire pulmonary obstructive vascular disease, they exhibit decreased pulmonary blood flow with subsequent loss of the diastolic rumble and attenuation of systolic murmur. They may also develop a loud second heart sound and a diastolic decrescendo murmur of pulmonary insufficiency.
  • Subpulmonary VSD without pulmonary stenosis
    • Physical examination reveals cyanosis, tachypnea, grunting, and signs of CHF.
    • Examination also reveals a loud pulmonary component of the second heart sound, a III/VI systolic murmur, and an apical diastolic rumble.
    • If coarctation of aorta is present, the examination also reveals diminished femoral pulses.
Previous
Next

Causes

As with other conotruncal heart defects, the cause of double outlet right ventricle may be of neural crest origin.[3] The neural crest is involved in the development of the cardiac septum. Studies indicate removal of the neural crest during development results in outflow tract malformations, and total removal of cardiac neural crest usually results in truncus arteriosus abnormality. Deletions of smaller parts of the cardiac neural crest result in malformations such as double outlet right ventricle, tetralogy of Fallot, and Eisenmenger complex. Interestingly, neural crest ablation rarely results in transposition of the great arteries. Most changes in heart morphology occur while the heart is still in the looped tube stage.

In addition to formation of cardiac structures, this area of neural crest cells participates in formation of the thymus and the thyroid and parathyroid glands, serving as the basis for association of congenital heart diseases (CHDs) with DiGeorge syndrome. The combination of velocardiofacial syndrome, DiGeorge syndrome (facial anomalies and parathyroid/thymus aplasia or hypoplasia), and a chromosome band 22q11 deletion is known as CATCH 22.[4, 5, 6]

The most common types of CHD associated with the band 22q11 deletion include tetralogy of Fallot, truncus arteriosus, VSDs, and aortic arch abnormalities.[4, 5, 6] Research has shown that 22q11 deletions are rare in double outlet right ventricle. In one study, only 1 in 20 patients with double outlet right ventricle had the deletion; double outlet right ventricle was defined only by lack of fibrous continuity between mitral and aortic valves and an aorta that arises more than 50% above the right ventricle.[6] However, because double outlet right ventricle encompasses such a large spectrum of anomalies, recommendations are to continue to test patients for the 22q11 deletion, especially when they display other features of velocardiofacial syndrome.

Previous
 
 
Contributor Information and Disclosures
Author

Maggie L Likes, MD Pediatric Cardiologist, Seattle Children's Heart Center; Assistant Professor of Pediatrics, University of Washington School of Medicine

Maggie L Likes, MD is a member of the following medical societies: American Society of Echocardiography

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 grant/research funds from Lundbeck Pharmaceuticals for none.

Chief Editor

Stuart Berger, MD Medical Director of The Heart Center, Children's Hospital of Wisconsin; Associate Professor, Department of Pediatrics, Section of Pediatric Cardiology, Medical College of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, Society for Cardiovascular Angiography and Interventions

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

Rod Tarrago, MD Pediatric Intensivist, Children's Respiratory and Critical Care Specialists; Chief Medical Information Officer, Children's Hospitals and Clinics of Minnesota

Rod Tarrago, MD is a member of the following medical societies: Society of Critical Care Medicine

Disclosure: Nothing to disclose.

References
  1. Witham AC. Double outlet right ventricle; a partial transposition complex. Am Heart J. 1957 Jun. 53(6):928-39. [Medline].

  2. Al-Muhaya MA, Ismail SR, Abu-Sulaiman RM, Kabbani MS, Najm HK. Short- and mid-term outcomes of total correction of Taussig-Bing anomaly. Pediatr Cardiol. 2012 Feb. 33(2):258-63. [Medline].

  3. Brown JW, Ruzmetov M, Okada Y, et al. Surgical results in patients with double outlet right ventricle: a 20- year experience. Ann Thorac Surg. 2001 Nov. 72(5):1630-5. [Medline].

  4. Kirby ML, Waldo KL. Role of neural crest in congenital heart disease. Circulation. 1990 Aug. 82(2):332-40. [Medline].

  5. Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. Journal of the American College of Cardiology. 1999. 32:499-501. [Medline].

  6. Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N. Chromosome 22q11 deletions in patients with conotruncal heart defects. Pediatr Cardiol. 2005 Sep-Oct. 26(5):570-3. [Medline].

  7. Momma K, Kondo C, Matsuoka R, Takao A. Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome. American Journal of Cardiology. 1996. 78:591-594. [Medline].

  8. Pitkanen OM, Hornberger LK, Miner SE, et al. Borderline left ventricles in prenatally diagnosed atrioventricular septal defect or double outlet right ventricle: echocardiographic predictors of biventricular repair. Am Heart J. 2006 Jul. 152(1):163.e1-7. [Medline].

  9. Tongsong T, Chanprapaph P, Sittiwangkul R, Khunamornpong S. Antenatal diagnosis of double outlet of right ventricle without extracardiac anomaly: a report of 4 cases. J Clin Ultrasound. 2007 May. 35(4):221-5. [Medline].

  10. Shi K, Yang ZG, Chen J, Zhang G, Xu HY, Guo YK. Assessment of Double Outlet Right Ventricle Associated with Multiple Malformations in Pediatric Patients Using Retrospective ECG-Gated Dual-Source Computed Tomography. PLoS One. 2015. 10 (6):e0130987. [Medline]. [Full Text].

  11. 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. [Medline].

  12. Li S, Ma K, Hu S, et al. Biventricular repair for double outlet right ventricle with non-committed ventricular septal defect. Eur J Cardiothorac Surg. 2015 Oct. 48 (4):580-7; discussion 587. [Medline].

  13. Tan LH, Du LZ, Carr MR, Kuzin JK, Moffett BS, Chang AC. Captopril induced reversible acute renal failure in a premature neonate with double outlet right ventricle and congestive heart failure. World J Pediatr. 2011 Feb. 7(1):89-91. [Medline].

  14. Dirks V, Prêtre R, Knirsch W, Valsangiacomo Buechel ER, Seifert B, Schweiger M, et al. Modified Blalock Taussig shunt: a not-so-simple palliative procedure. Eur J Cardiothorac Surg. 2013 Mar 28. [Medline].

  15. Lacour-Gayet F. Complexity stratification of the arterial switch operation: a second learning curve. Cardiol Young. 2012 Dec. 22(6):739-44. [Medline].

  16. Artrip JH, Sauer H, Campbell DN, et al. Biventricular repair in double outlet right ventricle: surgical results based on the STS-EACTS International Nomenclature classification. Eur J Cardiothorac Surg. 2006 Apr. 29(4):545-50. [Medline].

  17. Takeuchi K, McGowan FX, Bacha EA, et al. Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect. Ann Thorac Surg. 2006 Jul. 82(1):146-52. [Medline].

  18. Bartelings MM, Gittenberger-de Groot AC. Morphogenetic considerations on congenital malformations of the outflow tract. Part 2: Complete transposition of the great arteries and double outlet right. International Journal of Cardiology. 1991. 33:5-26. [Medline].

  19. Battistessa S, Soto B. Double outlet right ventricle with discordant atrioventricular connexion: an angiographic analysis of 19 cases. International Journal of Cardiology. 1990. 27:253-267. [Medline].

  20. Belli E, Serraf A, Lacour-Gayet F, et al. Biventricular repair for double-outlet right ventricle. Results and long-term follow-up. Circulation. 1998. 98 (19 supplement):360-367. [Medline].

  21. Belli E, Serraf A, Lacour-Gayet F, et al. Double-outlet right ventricle with non-committed ventricular septal defect. Eur J Cardiothorac Surg. 1999 Jun. 15(6):747-52. [Medline].

  22. D'Alessandro LC, Latney BC, Paluru PC, Goldmuntz E. The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. Am J Med Genet A. 2013 Apr. 161A(4):792-802. [Medline]. [Full Text].

  23. De Luca A, Sarkozy A, Ferese R, Consoli F, Lepri F, Dentici ML, et al. New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. Clin Genet. 2011 Aug. 80(2):184-90. [Medline].

  24. Drenthen W, Pieper PG, van der Tuuk K, et al. Fertility, pregnancy and delivery in women after biventricular repair for double outlet right ventricle. Cardiology. 2008. 109(2):105-9. [Medline].

  25. Manner J, Seidl W, Steding G. Embryological observations on the morphogenesis of double-outlet right ventricle with subaortic ventricular septal defect and normal arrangement of the great arteries. Thorac Cardiovasc Surg. 1995 Dec. 43(6):307-12. [Medline].

  26. Oppido G, Napoleone CP, Loforte A, et al. Complex double-outlet right ventricle repair in a neonate with complete tracheal agenesis. J Thorac Cardiovasc Surg. 2004 Jan. 127(1):283-5. [Medline].

  27. Patel CR, Steele MA, Stewart JW. Double-outlet right ventricle with partial anomalous pulmonary venous connection:prenatal diagnosis. J Ultrasound Med. 2005 Jun. 24(6):861-4. [Medline].

  28. Silka MJ. Double-outlet ventricles. The Science and Practice of Pediatric Cardiology. 2nd ed. 1997. 1132, 1505-23.

  29. Takeuchi K, McGowan FX Jr, Moran AM, et al. Surgical outcome of double-outlet right ventricle with subpulmonary VSD. Ann Thorac Surg. 2001 Jan. 71(1):49-52; discussion 52-3. [Medline].

  30. Tan ZP, Huang C, Xu ZB, Yang JF, Yang YF. Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin Genet. 2011 Sep 15. [Medline].

  31. Tchervenkov CI, Korkola SJ, Beland MJ. Single-stage anatomical repair of complete atrioventricular canal, double-outlet right ventricle, and cor triatriatum using ventricular septal defect translocation. Ann Thorac Surg. 2002 Apr. 73(4):1317-20. [Medline].

  32. Walters HL, 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. [Medline].

  33. Wernovsky G, Hanley FL. Double outlet right ventricle. Pediatric Cardiac Intensive Care. 1st ed. 1998. 301-3.

 
Previous
Next
 
Neonate with double outlet right ventricle. Chest radiograph shows a mildly enlarged heart with symmetrically slightly increased pulmonary vasculature.
Double outlet right ventricle with subaortic ventricular septal defect. Arrow shows flow of oxygenated blood from left ventricle to aorta.
Repair of double outlet right ventricle with subaortic ventricular septal defect.
Double outlet right ventricle with subpulmonary ventricular septal defect (Taussig-Bing anomaly).
Complex repair of double outlet right ventricle with subpulmonary ventricular septal defect.
Double outlet right ventricle with doubly committed ventricular septal defect.
Repair of double outlet right ventricle with doubly committed ventricular septal defect showing VSD patch and intraventricular baffle.
Double outlet right ventricle with noncommitted ventricular septal defect.
Repair of double outlet right ventricle with noncommitted ventricular septal defect using a long ventricular septal defect patch.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.