ESPE Abstracts

Background: Turner syndrome (TS) is caused by complete or partial of the second sex chromosome and characterized bygrowth failure, primary ovarian failure, the constellation of the lymphedema sequence, characteristic facial features, left-sided cardiac anomalies, renal anomaly, and skeletal anomalies. Among all of the associated traits, cardiovascular abnormalities are common in TS and an important cause of early mortality. Hence, our aim is to investigate the correlations between the cardiovascular phenotype and karyotype in TS in Taiwan.

Patients and Methods: We conducted a retrospective analysis of 105 Turner syndrome patients, aged 6-43 years old, from January 1994 to December 2018 at the Division of Pediatric Endocrinology & Genetics, Chang-Gung Memorial Hospital in Taiwan. The patients were categorized into 2 groups according to karyotype, each were comprised with X chromosome monosomy(45, X) and the other X chromosome abnormalities(including mosaicism and structural aberrations).

Most of the patients were evaluated with echocardiography (n=88, 83.8%), coronary computed tomography angiography (CTA), and/or cardiovascular magnetic resonance imaging (CMR)(n=58, 55.2%).

Results: Cardiovascular malformations were found in 29 (27.6%) TS patients. Aortic dilatation (AD) was the most common cardiovascular malformation 18.2% (16/88), composed of 37.5% (6/16) aortic root dilatation only, 25% (4/16) ascending aortic dilatation only, and 37.5% (6/16) both aortic root and ascending aortic dilatation. The overall prevalence of bicuspid aortic valve (BAV) was 6.8% (6/88) and the monosomy X group had higher prevalence in aortic dilatation(P=0.002) and BAV(P=0.007). Mitral valve regurgitation(MR)(6.8%), tricuspid valve regurgitation(TR)(6.8%), coarctation of aorta(CoA)(3.4%), aortic regurgitation(AR)(3.4%), aortic stenosis(AS)(2.3%), mitral valve prolapse(MVP)(2.3%), atrial and ventricular septal defect(ASD and VSD)(both 1.1%), right-sided aortic arch(1.1%), and partial anomalous pulmonary venous return(PAPVR)(1.1%) were noted with decreasing frequency, and there were no significantly difference between the study groups among the prevalence of the above cardiovascular malformations.

Conclusion: The incidence of bicuspid aortic valve and aortic dilatation is higher in women with 45, X karyotypes. Patients with X monosomy should have surveillance for aortic root dilatation, treatment for hypertension and prophylactic medical therapy with timely surgical consultation to reduce the incidence of aortic dissection.