Double Outlet Right Ventricle With Normally Related Great Arteries
- Author: Rod Tarrago, MD; Chief Editor: Stuart Berger, MD more...
Background
Double outlet right ventricle (DORV) was first pathologically described in the late 19th century as partial transposition. In 1957, Witham first used the term double outlet right ventricle to describe a partial transposition of the great arteries.[1] He described 4 hearts with 2 varieties of "complete aortic transposition with the pulmonary artery in normal position."
Double outlet right ventricle is defined as a form of ventriculoarterial connection in which both great arteries arise completely or predominantly from the morphologic right ventricle. This definition is still controversial. For example, some researchers require that the aorta and the pulmonary artery arise entirely from the right ventricle. Others require that 90% of the great vessels arise from the morphologic right ventricle. Alternatively, the 50% rule states that more than one half of both arterial trunks must arise from the morphologic right ventricle. Some require only the presence of fibrous discontinuity between the mitral and semilunar valves. This is present in most specimens and is referred to as subpulmonic and subaortic conus.
Pathophysiology
Double outlet right ventricle, with a large variability in anatomy, represents a continuum of congenital heart defects (CHDs) that includes ventricular septal defect (VSD) with significant override of the aorta, origin of both great arteries from the right ventricle, and transposition of the great arteries with pulmonary override of the VSD. A common arterial trunk may also arise completely from the right ventricle. This is actually a type of truncus arteriosus.
Pathophysiologic description and classification is accomplished by relating the location of the VSD to the arrangement of the great vessels. Each combination results in a physiologic behavior similar to that of other CHDs. The VSD in double outlet right ventricle can be subaortic, subpulmonary, noncommitted, or doubly committed. Most VSDs are nonrestrictive, but as many as 17% of patients may require VSD enlargement during repair to allow unrestricted systemic blood flow.
The most common type of VSD found in double outlet right ventricle is a subaortic type. The aortic orifice is usually posterior and to the right of the pulmonary orifice, with a spiral arterial relationship. Because the great arteries are normally related, the left ventricular outflow is directed toward the aorta, resulting in aortic oxygen saturations that exceed pulmonary saturations. Associated pulmonary stenosis is present in as many as 50% of patients with double outlet right ventricle. The resulting physiology is similar to tetralogy of Fallot, in which the aorta completely overrides the right ventricle.
Systolic pressures are equal in both ventricles and in the aorta. In the absence of pulmonary stenosis, the physiology resembles that of a large isolated VSD, in which the ratio of pulmonary to systemic blood flow is determined by the pulmonary vascular resistance. Systemic and pulmonary saturations are also affected by the degree of mixing in the right ventricle. This anatomy may result in congestive heart failure (CHF) and pulmonary vascular disease.
In double outlet right ventricle with subpulmonary VSD (Taussig-Bing anomaly), the left ventricular outflow is directed toward the pulmonary artery. This preferential streaming results in pulmonary artery saturations greater than aortic saturations. The aortic and pulmonary orifices are usually positioned side by side but are described as transposed or malposed. The rare presence of pulmonary stenosis results in physiology similar to tetralogy of Fallot. However, in the absence of pulmonary obstruction or stenosis, patients with double outlet right ventricle and subpulmonary VSD have physiology similar to transposition of the great arteries and VSD. In this case, pulmonary vascular resistance (PVR) determines pulmonary blood flow. Early-onset pulmonary obstructive vascular disease commonly develops because of increased pulmonary blood flow and pressures, yet cyanosis may be absent with high pulmonary blood flow. This type of double outlet right ventricle is frequently associated with subaortic stenosis and arch obstruction.
Double outlet right ventricle with noncommitted or remote VSD has anatomy and physiology similar to that of an isolated VSD or atrioventricular canal defect. To meet the criteria for double outlet right ventricle with noncommitted VSD, some have suggested that the distance between the VSD and the aortic and pulmonary outflow tracts should be at least equal to the aortic valve diameter. Most commonly, the great arteries are normally related in this type of double outlet right ventricle. Pulmonary and systemic blood flow and saturations are determined by the ratio of pulmonary to systemic vascular resistance and by the degree of right ventricular mixing.
Finally, double outlet right ventricle with doubly committed VSD displays physiology in which the left ventricular outflow is equally shared by the aorta and pulmonary artery. The systemic and pulmonary vascular resistances determine the ratio of pulmonary-to-systemic blood flow. This is a relatively rare form of double outlet right ventricle that typically has normally related great arteries. Right ventricular mixing affects oxygen saturations.
Because double outlet right ventricle is the only defect in less than 50% of patients with double outlet right ventricle, classification and description may also take into consideration obstruction of the systemic circulation, ventricular anomalies, coronary artery anomalies, and conduction system abnormalities. Upon further investigation, findings of additional VSDs, anomalies of ventricular rotation, and anomalies of insertion of the subvalvar apparatus of atrioventricular valves are not uncommon.
Systemic circulation may be obstructed at the aortic valve or the obstruction may be subaortic; subaortic obstruction develops in approximately 10% of patients. Aortic valve anomalies are usually associated with mitral valve anomalies that may also be present in the form of a restrictive VSD. Coarctation of the aorta is the most common associated lesion, and interrupted aortic arch may also be present.
Patients with double outlet right ventricle can have coexisting ventricular anomalies. Left ventricular inflow anomalies are less frequent yet can be severe. Mitral stenosis or atresia is often associated with a hypoplastic left ventricle and intact ventricular septum. Left ventricular hypoplasia is present if decreased pulmonary venous return, restrictive VSD, and large atrial septal defect (ASD) are present. Misalignment of atrioventricular valves is also visible. This is very important for surgical correction and must be investigated. Finally, straddling of the atrioventricular valve annuli or straddling of the chordae may be present. Right ventricular abnormalities including tricuspid regurgitation, tricuspid stenosis, and Ebstein malformation may develop.
Coronary artery abnormalities are related to the relationship of the great arteries with several variations, including anomalous origin of the right coronary artery (RCA) from the left main coronary artery (LMCA), duplication of left anterior descending coronary artery (LAD), anomalous origin of LAD from RCA (associated with a subaortic VSD and pulmonary stenosis), anterior origin of LAD, RCA immediately beneath pulmonary annulus (seen with L-malposed aorta), and RCA from the posterior sinus of Valsalva/LMCA from the left sinus, which is seen with an anterior aorta and subpulmonary VSD and is similar to transposition of the great arteries.
Conduction system abnormalities develop because of alterations in anatomy. Anatomy of the atrioventricular node and His-Purkinje system is similar to that in an isolated perimembranous VSD. In subaortic, subpulmonary, and doubly committed VSD, conduction tissues are displaced from the superior margin of the VSD.
Other abnormalities and associations are rare and can include dextrocardia and atrioventricular discordance, superior and inferior ventricles, and single atrioventricular valve connection.
Epidemiology
Frequency
United States
Double outlet right ventricle accounts for 1-1.5% of all CHDs, with an incidence of 1 per 10,000 live births.
International
Incidence is the same internationally as in the United States.
Mortality/Morbidity
One review found early in-hospital mortality after operation to be 4.8%.[2] The rate was significantly higher in patients with complex lesions. Late mortality was 3.2% with a mean follow-up time of 5.3 years. Overall 15-year survival ranged from 89.5-95.8%, with more complex lesions exhibiting higher mortality rates. Reoperation was required in 11.2% of surviving patients. This occurred a mean of 4.1 years after the original definitive repair. The most likely cause of reoperation was right ventricular outflow tract obstruction. Fifteen-year freedom from reoperation rates in surviving patients ranged from 72-100%. The reoperation rate was higher in patients with subpulmonary VSDs.
Race
No race predilection has been reported.
Sex
No sex predilection has been reported.
Age
Most cases of double outlet right ventricle are diagnosed in the first month of life.
Witham AC. Double outlet right ventricle; a partial transposition complex. Am Heart J. Jun 1957;53(6):928-39. [Medline].
Brown JW, Ruzmetov M, Okada Y, et al. Surgical results in patients with double outlet right ventricle: a 20- year experience. Ann Thorac Surg. Nov 2001;72(5):1630-5. [Medline].
Kirby ML, Waldo KL. Role of neural crest in congenital heart disease. Circulation. Aug 1990;82(2):332-40. [Medline].
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].
Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N. Chromosome 22q11 deletions in patients with conotruncal heart defects. Pediatr Cardiol. Sep-Oct 2005;26(5):570-3. [Medline].
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].
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. Jul 2006;152(1):163.e1-7. [Medline].
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. May 2007;35(4):221-5. [Medline].
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].
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. Feb 2011;7(1):89-91. [Medline].
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. Apr 2006;29(4):545-50. [Medline].
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. Jul 2006;82(1):146-52. [Medline].
Tan ZP, Huang C, Xu ZB, Yang JF, Yang YF. Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin Genet. Sep 15 2011;[Medline].
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. Aug 2011;80(2):184-90. [Medline].
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].
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].
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].
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].
Belli E, Serraf A, Lacour-Gayet F, et al. Double-outlet right ventricle with non-committed ventricular septal defect. Eur J Cardiothorac Surg. Jun 1999;15(6):747-52. [Medline].
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. Dec 1995;43(6):307-12. [Medline].
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. Jan 2004;127(1):283-5. [Medline].
Patel CR, Steele MA, Stewart JW. Double-outlet right ventricle with partial anomalous pulmonary venous connection:prenatal diagnosis. J Ultrasound Med. Jun 2005;24(6):861-4. [Medline].
Silka MJ. Double-outlet ventricles. In: The Science and Practice of Pediatric Cardiology. 2nd ed. 1997:1132, 1505-23.
Takeuchi K, McGowan FX Jr, Moran AM, et al. Surgical outcome of double-outlet right ventricle with subpulmonary VSD. Ann Thorac Surg. Jan 2001;71(1):49-52; discussion 52-3. [Medline].
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. Apr 2002;73(4):1317-20. [Medline].
Walters HL, 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].
Wernovsky G, Hanley FL. Double outlet right ventricle. In: Pediatric Cardiac Intensive Care. ed. 1998:301-3.
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