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Double Outlet Right Ventricle With Transposition Clinical Presentation

  • Author: M Silvana Horenstein, MD; Chief Editor: P Syamasundar Rao, MD  more...
 
Updated: Apr 29, 2014
 

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).[3, 4, 5] 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, truncus arteriosus (TA), atrial septal defect (ASD), atrioventricular septal defect (AVSD), ventricular septal defect (VSD), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF) occur with a higher incidence in the offspring of mothers with pregestational diabetes mellitus than in the general population. Teratogenic mechanisms involved are thought to be related to increased reactive oxygen species production, impaired cell proliferation, and altered Gata-4, Gata-5, and vascular endothelial growth factor (VEGF)–α expression. According to research studies in pregnant diabetic rats, antioxidant supplementation with vitamin E reduced the severity of malformations in their offspring[6] and supplementation of their drinking water with N -acetylcysteine eliminated the incidence of AVSD, TOF, and TGA and decreased the incidence of ASD and VSD.[7]

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. This is supported by the discovery that mutations in the NPHP4 gene involved in the formation of motile cilia in the Kupffer vesicle, which produce asymmetrical fluid flow necessary for normal left-to-right asymmetry, cause laterality defects such as dextrocardia, transposition of great arteries, DORV, and caval vein abnormalities.[8]

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.[9]

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Contributor Information and Disclosures
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 grant/research funds from Lundbeck Pharmaceuticals for none.

Chief Editor

P Syamasundar Rao, 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

P Syamasundar Rao, 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.

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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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