In cyanotic newborns total anomalous pulmonary venous connection is one of the differential diagnosis which requires shortly after diagnosis surgical management, particularly in cases with associated pulmonary venous stenosis. Although most cases are sporadic pulmonary venous anomalies should be assumed in patients with syndromic associations as described in our patient.
Case report
We report the case of a female neonate (41 weeks) who was born spontaneously after unremarkable pregnancy (birth weight 2.900 grams, APGAR 9-10-10). Postnatally, multiple malformations were noticed, suspecting the diagnosis of oculo-auriculo-vertebral dysplasia – Goldenhar syndrome. After a few hours, the newborn deteriorated requiring increasing oxygen and intratracheal ventilation. Chest radiograph showed a completely opaque left haemithorax. On echocardiography, no pulmonary artery and pulmonary veins were detected on the left side, but there was a finding of anomalous pulmonary venous return on the right side. Computed tomography confirmed the suspected diagnosis of agenesis of the left lung (Fig 1) and anomalous pulmonary venous drainage of the right pulmonary veins. In addition to a large atrial septal defect, the neonate also had a small perimembranous ventricular septal defect, both with right-to-left shunt. For surgical planning in this unique case, a cardiac catheterisation confirmed the absence of the left pulmonary artery and no pulmonary vein draining to the left atrium. Right-sided pulmonary veins were connected with a pulmonary venous confluence posterior to the left atrium draining via left superior caval vein to the innominate vein and via coronary sinus to the right atrium (Fig 2).
Figure 1 Volume-rendered computed tomogram of the airway and lung seen from front shows agenesis of the left lung.
Figure 2 Volume-rendered computed tomogram of the heart and vessels seen from behind shows anomalous connection of the right pulmonary veins – marked with blue colour – to the junction of the lower part of the left superior caval vein where it connects to the coronary sinus. The right pulmonary veins drain to the left innominate vein through the left superior caval vein and also to the right atrium through the coronary sinus. The aorta and its branches are marked with red colour.
To avoid restrictive anastomosis of the common right pulmonary vein to the left atrium, two drainage routes were created. The left superior caval vein was disconnected above the pulmonary venous connection, and the pulmonary venous side of the disconnected caval vein was anastomosed to the left atrium after ligation of the upper part of the caval vein. An additional drainage route was created by unroofing the coronary sinus and closing the ostium of the coronary sinus.
To the best of our knowledge, this is the first report of the rare combination of total anomalous pulmonary venous return, unilateral lung agenesis, and oculo-auriculo-vertebral dysplasia. Maltz and NadasReference Maltz and Nadas1 and Boxer et alReference Boxer, Hayes and Hordof2 each mentioned one case of anomalous pulmonary venous return and unilateral lung agenesis, but none of these two patients was described as having the Goldenhar syndrome. From the literature, Maltz and Nadas also listed skeletal and auricular abnormalities in patients with lung agenesis, but no combination of all three diagnoses in one patient.
