Double Outlet Right Ventricle With Transposition Clinical Presentation

Updated: Jan 29, 2019
  • Author: M Silvana Horenstein, MD; Chief Editor: Syamasundar Rao Patnana, MD  more...
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History of fetal bradycardia and 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 by fetal echocardiographic studies.

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 and the degree of pulmonary valve stenosis (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.

Instead, 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.


Physical Examination

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 holosystolic 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, faint cyanosis and mild or no CHF may be present. These patients present with a murmur from PS (systolic ejection murmur), from the VSD (holomurmur), 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 as pulmonary overcirculation develops, the cyanosis is less prominent. Failure to thrive is likely to develop if treatment is not instituted. The second heart sound is loud and possibly single, and a holosystolic 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 may be present, leading to failure to thrive.