January - March 2021, Volume 17, Issue 1

Kardelen Al AD, Gencay G, Bayramoglu Z, Aliyev B, Karakilic-Ozturan E, Poyrazoglu S, Nisli K, Bas F, Darendeliler F

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Acta Endo (Buc) 2021, 17 (1): 124-130
doi: 10.4183/aeb.2021.124

Objectives. Turner Syndrome (TS) is associated with a high risk of cardiac anomalies and cardiovascular disease. We aimed to evaluate patients with TS (n=33) for cardiac and aortic pathology using thorax magnetic resonance angiography (MRA). Subjects and methods. Clinical findings, karyotypes, echocardiogram (ECHO) findings and thorax MRA results were evaluated. Aortic dimensions were measured and standard Z scores of aortic diameters along with aortic size index (ASI) were calculated. Results. Mean age of the patients was 13.7±3.4 years. MRA revealed cardiovascular pathology in 10 patients (30%). CoA (n=4), aberrant right subclavian artery (n=3), dilatation of the ascending aorta (n=1), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left subclavian artery (n=1) were found. Two of the four patients with CoA found on MRA were detected with ECHO. Mean diameter of the sinotubular junction was found to be elevated [mean±SD: 2.4±1.5]. Z scores for the diameters of the isthmus, ascending aorta and descending aorta were in normal ranges. 45,X patients were found to have significantly higher ASI values than non 45,X patients (p=0.036). Conclusion. Our findings indicate that patients with TS should be evaluated with MR imaging studies in addition to ECHO to reveal additional subtle cardiac and vascular anomalies. CoA which is very distally located or which has mild nature may not be seen by ECHO. The increase in ASI observed in 45,X patients may herald the development of life-threatening complications. Therefore, frequent followup is warranted in these patients.

Keywords: aortic dilatation, cardiovascular, thorax angiography, Turner syndrome.

Correspondence: Asli Derya Kardelen MD, Istanbul Faculty of Medicine, Department of Pediatric Endocrinology, Istanbul, 34452, Turkey, E-mail: aslideryakardelen@gmail.com