History
Infants with transposition of the great arteries (TGA) are usually born at term, with cyanosis apparent within hours of birth.
The clinical course and manifestations depend on the extent of intercirculatory mixing and the presence of associated anatomic lesions. Note the following:
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Transposition of the great arteries with intact ventricular septum: Prominent and progressive cyanosis within the first 24 hours of life is the usual finding in infants if no significant mixing at the atrial level is evident.
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Transposition of the great arteries with large ventricular septal defect: Infants may not initially manifest symptoms of heart disease, although mild cyanosis (particularly when crying) is often noted. Signs of congestive heart failure (tachypnea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases.
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Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Infants often present with extreme cyanosis at birth, proportional to the degree of left ventricular (pulmonary) outflow tract obstruction. The clinical history may be similar to that of an infant with tetralogy of Fallot.
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Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressively advancing pulmonary vascular obstructive disease can prevent this rare subgroup of patients from developing symptoms of congestive heart failure, despite a large ventricular septal defect. Most often, patients present with progressive cyanosis, despite an early successful palliative procedure.
Physical Examination
Newborns with transposition of the great arteries are usually well developed, without dysmorphic features. Physical findings at presentation depend on the presence of associated lesions. Note the following:
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Transposition of the great arteries with intact ventricular septum: Infants typically present with progressive central (perioral and periorbital) cyanosis. Other than cyanosis and a loud, single second heart sound (S2), the physical examination is often unremarkable.
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Transposition of the great arteries with large ventricular septal defect: Cyanosis may be mild initially, although it is usually more apparent with stress or crying. Upon presentation, infants often have an increased right ventricular impulse; a loud, single second heart sound (S2); usually no systolic murmurs; possibly a mid-diastolic rumble; and gallop rhythm. Hepatomegaly may be present.
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Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Cyanosis is prominent at birth, and the findings are similar to those of infants with tetralogy of Fallot. A single second heart sound (S2) and a systolic ejection murmur may be present. Hepatomegaly is rare.
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Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressive pulmonary vascular obstructive disease is not always evident from physical examination findings. A loud, single second heart sound (S2) is present. Cyanosis is usually present and can progress despite palliative therapy in the newborn period.
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This video shows the repair of a newborn with transposition of the great arteries and ventricular septal defect (VSD) by means of arterial switch and VSD closure. Procedure performed by Giles Peek MD, FRCS, CTh, FFICM, The Children’s Hospital at Montefiore, Bronx, NY. Video courtesy of Montefiore.
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Switch ventricular septal defect (VSD hypoplastic right arch). Procedure performed by Giles Peek MD, FRCS, CTh, FFICM, The Children’s Hospital at Montefiore, Bronx, NY. Video courtesy of Montefiore.
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This two-dimensional echocardiogram (parasternal long-axis view) shows a patient with transposition of the great arteries and ventricular septal defect (VSD). The pulmonary artery arises from the posterior (left) ventricle, dives posteriorly, and then bifurcates immediately into the left and right branch pulmonary arteries. A large VSD is present in the outlet septum.
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This two-dimensional echocardiogram (apical 4-chamber view) shows a patient with transposition of the great arteries and ventricular septal defect. The anterior aorta arises from the right-sided right ventricle.
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This right ventricular angiogram shows a patient with transposition of the great arteries. The aorta arises directly from the right-sided anterior right ventricle (10° left anterior oblique [LAO]).
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This right ventricular angiogram shows a patient with transposition of the great arteries. The aorta arises directly from the right-sided anterior right ventricle (70° left anterior oblique [LAO]).
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This left ventricular angiogram shows a patient with transposition of the great arteries. The pulmonary artery arises directly from the left-sided posterior left ventricle (30° right anterior oblique [RAO]).
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This left ventricular angiogram shows a patient with transposition of the great arteries. The pulmonary artery arises directly from the left-sided posterior left ventricle (20° cranial).
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This echocardiographic video (subcostal view) in a 1-day-old newborn reveals transposition of the great vessels and inadequate intracardiac mixing at the atrial level, resulting in severe desaturation. The video was obtained before the infant underwent balloon atrial septostomy. Video courtesy of Howard S Weber, MD, FSCAI.
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This two-dimensional echocardiographic video (subcostal view) was obtained immediately following emergent balloon atrial septostomy in the same newborn discussed in the previous video. It now demonstrates a nonrestrictive atrial communication, which resulted in alleviation of the infant's cyanosis. Video courtesy of Howard S Weber, MD, FSCAI.
