Partial anomalous pulmonary vein connection: an underestimated cardiovascular defect in Ullrich-Turner syndrome

Congenital cardiovascular defects, commonly affecting the aortic valve or the aortic arch (50% to 70%), are seen in ca. 17%-44% of patients with Ullrich-Turner syndrome (UTS). However, there are only 36 case reports worldwide on the coincidental finding of partial anomalous pulmonary vein connection (PAPVC) in UTS. In 4 out of 108 patients with UTS seen in our clinic, PAPVC was suspected echocardiographically and confirmed by angiography in three patients. Surgical correction was performed in one patient with right ventricular enlargement. PAPVC can lead to right ventricular volume load and hypertrophy in adolescence. Early diagnosis and when necessary treatment is recommended.

cardiological evaluation in patients with Ullrich-Turner syndrome should pay special attention to partial anomalous pulmonary vein connection.