Prevalence Of Coarctation Research Articles

The contribution of X-chromosome genomic imprinting to the bicuspid aortic valve and aortic coarctation prevalence in women with Turner syndrome

Abstract Introduction Turner syndrome (TS) is caused by the absence or structural abnormality of X chromosome. Compared with the general population, the prevalence of congenital heart defects is significantly higher in women with TS, especially with 45,X karyotype. Moreover, congenital heart defects represent the major risk for aortic dissection in TS individuals. Purpose There is a lack of reliable evidence whether the extremely variable cardiovascular phenotype including presence of aortic coarctation (CoA) and bicuspid aortic valve (BAV) in TS women may be influenced by the parental origin of the retained X chromosome. Methods DNA samples were collected from peripheral lymphocytes of 48 women with non-mosaic 45,X karyotype and from buccal swab of their biological parents' cheek. Subsequently, the single normal X-chromosome origin was identified. Based on genetic evaluation, patients were divided into two subgroups according to the parenteral original of X chromosome - maternal (XM), and paternal (XP). Complete cardiovascular examination (echocardiography, MRI of the heart and great vessels) was performed in each of our study patient. Differences between the prevalence of BAV and CoA in two above mentioned subgroups were tested by Student's t-test using R Statistical Software version 2.15.3. Results The origin of the single X chromosome was as follows: in 14 (29.2%) individuals was proved paternal and in 34 (70.8%) maternal origin of X chromosome. The prevalence of BAV in the whole group was 47.9%, in XP 58%, in XM 44.1%; the prevalence of CoA in the whole group was 8.3%, in XP 7.1%, in XM 8.8%. There was no statistically significant difference identified between the prevalence of BAV and CoA in XP and XM subgroups. Conclusions Our study confirmed an extremely high prevalence of BAV and CoA in non-mosaic women with X chromosome monosomy but no clear evidence for X-linked genomic imprinting effect on the CoA and BAV development in TS individuals was found. However, further studies of larger numbers of TS patients are crucial to finally clarify the real relationship of genomic imprinting and cardiovascular disease in TS. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Supported by the grant from Ministry of Health of the Czech Republic VES 2017

Abstract 16913: Cardiac Magnetic Resonance Versus Routine Catheterization Prior to Bidirectional Glenn Operation: Long-Term Follow-Up of a Randomized Clinical Trial

Background: A previously published randomized clinical trial of cardiac magnetic resonance (CMR) versus routine catheterization in patients with functional single ventricle (SV) prior to Glenn operation (BDG) demonstrated similar short-term post-operative outcomes. We sought to evaluate late outcomes in this cohort to ascertain any long-term effects of this management strategy. Methods: Retrospective review of enrolled patients through most recent follow-up. Results: Follow-up was available on all 82 patients in the original cohort, median age 6.5 years at most recent follow-up. Of these, 76 (93%) underwent Fontan operation; 2 died prior to Fontan. Baseline demographics, anatomic factors, and age at BDG did not differ between those randomized to CMR versus catheterization. Although CMR patients were slightly younger at Fontan operation (2.4 vs 2.7 years, p=0.02), baseline weight, body surface area, and oxygen saturation at time of Fontan were similar. Echocardiographic data prior to Fontan were similar, with 2 patients in each group having ≥ moderate ventricular dysfunction, and only 1 patient with ≥ moderate atrioventricular valve regurgitation. Catheterizations were performed in all patients prior to Fontan (n=76). Although age at catheterization was younger in the CMR group (2.3 vs 2.7 years, p=0.003), hemodynamic parameters were not significantly different, including pulmonary vascular resistance, mean pulmonary artery, atrial, and ventricular end-diastolic pressures. Prevalence of coarctation and pulmonary artery stenoses were similar. Patients in the CMR group had a similar rates of transcatheter interventions (71 vs. 79%, p=0.6) including similar rate of coil occlusion of aorto-pulmonary collaterals (66 vs. 61%, p=0.29). At time of Fontan, short-term complications, hospital length of stay, and the percent of patients meeting a 5-part definition of a successful Fontan operation were not significantly different (71 vs 55%, p=0.23). Conclusions: The CMR and catheterization groups had equivalent clinical and hemodynamic profiles prior to Fontan, and similar post-Fontan outcomes at a median follow-up of 6 years post BDG. For selected patients, a pre-BDG evaluation with CMR is an acceptable alternative to catheterization.

Turner Syndrome With Unusual Conotruncal Defect

The Turner syndrome is a frequently occurring chromosomal syndrome. It is characterized by X monosomy, mosaicism 45X/46XX, partial deletion of X chromosome, and various rearrangements of X chromosome, leading to several clinical features and congenital anomalies: short stature, webbing of the neck (pterygium colli), nuchal cystic hygroma, hypogonadism, with absent ovarian tissue, and renal anomalies.1 Congenital heart defects occur often in the Turner syndrome1,2; there is a high prevalence of coarctation of the aorta3-5 and bicuspid aortic valve6; ventricular septal defects, atrial septal defects, and hypoplastic left heart syndrome are less frequent.7,8 Conotruncal defects have never been reported, to our knowledge, in patients with the Turner syndrome.