Partial anomalous pulmonary venous drainage associated with 45,X Turner's syndrome

Turner's syndrome has well-described associations with congenital heart disease. Up to one third of patients with karyotype 45,X may have coarctation of the aorta. In addition, patients with hypertrophic cardiomyopathy, septal defects, dextrocardia, and anomalous pulmonary venous drainage have been reported anecdotally. Twenty-one consecutive patients with Turner's syndrome were prospectively evaluated. All patients underwent examination by a pediatric cardiologist, electrocardiogram, chest radiograph, and echocardiogram. Three patients with evidence of right ventricular volume overload had cardiac catheterization. Of 12 patients with karyotype 45,X 3 had partial anomalous pulmonary venous drainage with intact atrial septum. One of the 3 also had moderate aortic stenosis. Two additional patients with 45,X had coarctation of the aorta and bicuspid aortic valve, and 4 other patients had minor cardiac defects. Of 9 patients with mosaic karyotype, 1 had a minor cardiac defect. The observations suggest that there may be a significant association of 45,X Turner's syndrome and partial anomalous pulmonary venous drainage.