Prevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome

Patients with Turner syndrome (TS) have a higher mortality than age-matched females, mainly due to cardiovascular disorders. Recently, an increased prevalence of partial anomalous pulmonary venous connection (PAPVC) was described in patients with TS. However, data on the clinical impact of PAPVC, that is, the need for surgical correction, are scarce. This study aimed at evaluating the prevalence and impact of congenital heart disease (CHD) with a focus on PAPVC in a TS population.

Patients with TS of all ages were included. Clinical data and reports of echocardiography, cardiac magnetic resonance (CMR), or computed tomography (CT) were retrospectively evaluated. CMR and CT were reviewed for PAPVC.

Seventy-nine patients with TS were included (53 adults, 26 children [mean age 25 years, range 5-67 years]). Sixty-five patients underwent echocardiography, 41 CMR, and 3 CT. Cardiovascular disorders were present in 45% of patients and more frequently in karyotype monosomy X (76%), followed by 45, X mosaicism (39%), X structural rearrangements (18%), and other, unknown (16%) (P < 0.02). The encountered CHD lesions were bicuspid aortic valve (N = 16, 24%), PAPVC (N = 6, 8%), and aortic coarctation (N = 4, 6%). Nine (13.4%) patients underwent surgery, mainly for aortic coarctation repair (N = 4). Only 1 of the 6 patients with PAPVC needed surgery.

The spectrum of cardiovascular disorders in TS appears to be associated with the karyotype. Among CHD lesions, bicuspid aortic valve is the most prevalent, followed by PAPVC, although the latter seems to have a minor impact on outcome. However, PAPVC is systematically missed on echocardiography and classically found in patients with complete monosomy X.