ESPE Abstracts (2018) 89 P-P2-239

Heart and Aorta Anomalies in Turner Syndrome and Relation with Karyotype

Aslı Derya Kardelen, Feyza Darendeliler, Genco Gençay, Zuhal İnce, Behruz Aliyev, Esin Karakılıç Özturan, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Kemal Nişli & Firdevs Baş


Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey


Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.

Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.

Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements of the aortic diameter at various points were recorded and Z scores and Aortic size index (ASI) were calculated.

Results: All patients had presented with short stature at the age of 9.0±3.0 years. Karyotype analysis revealed 45,X in 15 patients(46%). 14 patients(42%) had mosaicism and 4(12%) had 46, XX;X chromosomal anomaly. MRI’s were taken at a mean age of 13.7±3.4 years.Mean BMI SDS at the time of MRI was 0.75±1.4.On echocardiogram five patients had bicuspid aortic valve, two patient had coarctation of the aorta. Four patients had hypertension. No patient had aortic dissection. MRI revealed cardiac pathology in 10 patients(30%). Namely, coarctation of the aorta (n=4), aberrant right subclavian artery (SCA) (n=3), tortuosity of the descending aorta (n=1) and fusiform dilatation of the left SCA (n=1) was revealed. Two of the four coarctation patients detected on MRI were detected also on echocardiogram. One patient had a postductal coarctation that was located too distally to be seen on echocardiogram, whereas the other patient had a very mild coarctation that was undetectable on echocardiogram due to lack of a gradient on Doppler imaging. Diameter of the sinotubular junction was found to be higher than 2 S.D.’s above mean (2.4±1.5; min–max: 0.35 and 5.7). The median Z score for the diameter of the isthmus was 0.9 (−2.0 to −4.0). The median Z score for the diameter of the ascending aorta was 0.4 (−1.7 to 2.8). The median Z score for the diameter of the descending aorta was −0.4 (−1.9 to −2.6). Aortic diameters and aortic size index values of the 45,X and non-45,X patients were compared and the 45,X group was found to have a significantly higher mean ASI value (1.7±0.3 and 1.5±0.3; P=0.036).

Conclusion: We conclude that MRI of the heart and the great vessels is warranted in patients with TS to detect all possible anomalies. 45,X patients with increased ASI may have increased risk of aortic dissection and these patients need closer follow-up.