P2244Anomalies in women of the aortic arch in Turner syndrome as an important risk factor for premature morbidity and mortality

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
E Klaskova ◽  
S Kapralova ◽  
J Zapletalova ◽  
Z Tudos ◽  
K Adamova
Keyword(s):  
Risk Factor ◽  
Aortic Arch ◽  
Cell Line ◽  
Turner Syndrome ◽  
Subclavian Artery ◽  
X Chromosome ◽  
Coarctation Of The Aorta ◽  
Aberrant Right Subclavian Artery ◽  
Structural Abnormality ◽  
Study Group

Abstract Introduction Turner syndrome (TS) represents the most common chromosomal disorder in women being, caused by the absence or structural abnormality of X chromosome. Congenital heart defects affect up to 50% of females with TS.Prevalence of coarctation of the aorta in TS has been estimated 7–18% depending on imaging method. Introduction of cardiac magnetic resonance imaging (MRI) into the routine practice markedly increased the detection rate of anomalies of the aortic arch such as elongated transverse aortic arch with abnormal curvature, i.e.kinking, pseudocoarctation or aberrant right subclavian artery. Aims of study was to estimate prevalence of anomalies of the aortic arch in our study group according to the karyotype. Methods and patients Study group consisted of 67 patients with TS at the age 7.3 yrs (range 0.1 - 16.5 yrs.). Complete cardiovascular examination (echocardiography, MRI of the heart and great vessels) and cytogenetic examination were performed in each of our study patient. Results The prevalence of anomalies of the aortic arch was 15% (10 patients). Four of them had elongated transverse aortic, coarctation of the aorta was found in three cases, aberrant right subclavian artery in two patients and one girl had right aortic arch. 45,X cell line was presented in every patient with anomaly of the aortic arch, none of them had structural abnormality of X chromosome. Conclusions Compared with the general population, the prevalence of CoA and the others anomalies of the aortic arch is significantly higher in women with TS, especially with 45,X cell line. As far as CoA is considered to be one of the major risk factor for aortic dissection detailed cardiovascular screening focused on thoracic aorta anomalies seems to be crucial in order to prevent it. Acknowledgement/Funding Supported by Ministry of Health, Czech Republic - MZ VES 2017 (Reg. No. NV17-29111A).

Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening

2017 ◽  
Vol 30 (3) ◽  
Author(s):  
Eva Klásková ◽  
Jiřina Zapletalová ◽  
Sabina Kaprálová ◽  
Marta Šnajderová ◽  
Jan Lebl ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Cell Line ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
P Value ◽  
Structural Abnormality ◽  
Study Group ◽  
Exact Relation ◽  
The Individual

AbstractBackground:Bicuspid aortic valve (BAV) represents one of the strongest risk factors for aortic dissection in Turner syndrome (TS). An exact relation between the occurrence of BAV and a particular karyotype has not been established yet. The aim of this study was to determine the association between karyotype and prevalence of BAV.Methods:Sixty-seven TS patients aged between 6.6 and 32.5 years underwent cardiac magnetic resonance imaging (MRI) study. They were divided into four cytogenetic subgroups−45,X karyotype (n=27); 45,X/46,XX mosaicism (n=17); structural abnormalities of the X chromosome (n=10); and 45,X/structural abnormality of the X chromosome mosaicism (n=13). Prevalence of BAV and odds ratio (OR) compared with the general population in the whole study group, and statistical comparison of prevalences of BAV among the individual subgroups were determined.Results:Prevalence of BAV in the whole study group was established as 28.4% [OR 208.3 (95% CI – 103.8–418.0); p-value<0.0001]. Individuals with 45,X karyotype had the highest prevalence of BAV – 40.7%, p-value<0.0001. Presence of any 45,X cell line in karyotype significantly predisposed to BAV (p-value=0.05).Conclusions:The 45,X karyotype is associated with the highest prevalence of BAV. Also, the presence of the 45,X cell line in any mosaic karyotype increases the probability of BAV.

scholarly journals Study on the views and methods of ultrasonic screening and diagnosis for abnormal aortic arch in infants

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Xinjian He ◽  
Jiaoyang Chen ◽  
Gaoyang Li
Keyword(s):  
Diagnostic Accuracy ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Coarctation Of The Aorta ◽  
Double Aortic Arch ◽  
Aberrant Right Subclavian Artery ◽  
Coincidence Rate ◽  
Aortic Arch Anomalies ◽  
Screening Sensitivity ◽  
Axis View

Abstract Background The purpose of this study was to explore echocardiographic views and methods of aortic arch anomalies in infants, so as to improve the screening sensitivity and diagnostic accuracy. Methods 140 children with abnormal aortic arch diagnosed by ultrasound in Children’s Hospital of Hebei Province from January 2014 to December 2019 were selected for retrospective analysis. All were confirmed by surgery or/and computerized tomography angiography. Series of views for aortic arch (the three-vessel and tracheal view, aortic arch short axis view, left aortic arch long axis view, aortic arch long axis continuous scan views) were performed in all cases on the basis of the routine views of echocardiography. The screening sensitivity and diagnostic coincidence rate of different echocardiographic views for aortic arch anomalies were analyzed. Results Among the 140 infants, right aortic arch were 21 cases (6/21 were accompanied by mirror branch and 15/21 were with aberrant left subclavian artery). Left aortic arch with aberrant right subclavian artery were 2 cases, and double aortic arch with both arches open were 20 cases. Double aortic arch with left arch atresia were 2 cases, and atresia of the proximal aorta with aortic arch dysplasia was 1 case. Coarctation of the aorta were 67 cases, and interruption of aortic arch were 27 cases. All the patients were correctly diagnosed except that 2 infants with interruption of aortic arch were incorrectly diagnosed as coarctation of the aorta, and 1 infant with coarctation of the aorta was misdiagnosed as interruption of aortic arch by echocardiography. The screening sensitivities of four views and four-view combination for abnormal aortic arch were 99.3, 73.6, 87.1, 99.3, and 100%; the diagnostic coincidence rates were 85.7, 27.1,66.4, 95.0%, and 97.9% respectively. On the basis of traditional left aortic long axis view, other three views had their own advantages. The screening sensitivity and diagnostic coincidence rate of four-view combination were significantly improved. Conclusions The three-vessel trachea view is simple and feasible, which is suitable for screening abnormal aortic arch. The combination of four views conduces to improving screening sensitivity and diagnostic accuracy of aortic arch abnormalities.

Hybrid Procedure for Coexistence of Coarctation of the Aorta and Aberrant Right Subclavian Artery: A Case Report and Review of the Literature

2021 ◽  
pp. 153857442110483
Author(s):  
Salomon Cohen-Mussali ◽  
Monica Leon ◽  
Claudio Ramírez-Cerda ◽  
Ernesto Cobos-Gonzalez ◽  
Jaime Valdes-Flores
Keyword(s):  
Case Report ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Coarctation Of The Aorta ◽  
Hybrid Procedure ◽  
Thoracic Endovascular Aortic Repair ◽  
Uncontrolled Hypertension ◽  
Aberrant Right Subclavian Artery ◽  
Review Of The Literature ◽  
Hybrid Repair

Background: Coarctation of the aorta (CoA) can either present alone as an isolated condition or in association with other aortic arch or cardiac anomalies. One percent of patients with CoA have concomitant an aberrant right subclavian artery (ARSA). Purpose: We report the case of a 35-year-old woman with uncontrolled hypertension who was found to have CoA and ARSA. Results: The patient was treated successfully using a hybrid procedure comprising ARSA ligation and subclavian to carotid transposition, followed by thoracic endovascular aortic repair. Conclusions: Patients with CoA should be carefully studied, considering the possible coexistence of other congenital aortic arch defects, such as ARSA. Hybrid repair is a safe and effective approach for this condition.

MR angiography of left-sided cervical aortic arch with aberrant right subclavian artery

2007 ◽  
Vol 80 (959) ◽  
pp. e260-e264 ◽  
Author(s):  
M Haliloglu ◽  
M Karcaaltincaba ◽  
B Oguz ◽  
A Celiker
Keyword(s):  
Aortic Arch ◽  
Subclavian Artery ◽  
Mr Angiography ◽  
Aberrant Right Subclavian Artery

scholarly journals A rare case of obstructive supracardiac TAPVR (Total Anomalous Pulmonary Venous Return) with aberrant right subclavian artery.

2021 ◽  
Vol 28 (7) ◽  
pp. 1058-1060
Author(s):  
Fazal ur Rehman ◽  
◽  
Sabiha Khan ◽  
Waqas Ali ◽  
Asif Ali Khuhro ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Subclavian Artery ◽  
Right Atrium ◽  
Venous Return ◽  
Pulmonary Veins ◽  
Vena Cava ◽  
Aberrant Right Subclavian Artery ◽  
Vertical Vein ◽  
Anomalous Pulmonary Venous Return ◽  
Tract Infections

Congenital aortic arch malformations manifest a broad-spectrum of differences and abnormalities that come from disturbed embryogenesis of branchial arches. Current case was a 10 months old baby girl with length of 69 cm (less than –3 SD) and weight of 5.5 kg (less than –3 SD). The patient had history of recurrent lower respiratory tract infections since the time of birth and failure to gain adequate weight since the time of birth. The patient has been having multiple check-ups with registered medical practitioners in the nearby locality and multiple courses of antibiotics with only partial resolution of symptoms. The 2-D echocardiogram showed her to be a case of supracardiac type of “Total Anomalous Pulmonary Venous Return (TAPVR)”. All pulmonary veins making a confluence and draining into the right atrium. Significant turbulence observed at the level of superior vena cava to right atrium junction. A level of obstruction was recorded at the junction of the confluence of pulmonary veins and the vertical vein. There was aberrant right subclavian artery from the aortic arch as its third branch with no obstruction or aneurysm formation, having retrotracheal and esophageal course.

Diverticulum of Kommerell with Micro Aneurysm, an Aberrant Right Subclavian Artery and Ventricular Septal Defect in a 39 Years Old Female: Case Report

2021 ◽  
Author(s):  
Xiaoming Bian
Keyword(s):  
Ventricular Septal Defect ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Septal Defect ◽  
Aortic Rupture ◽  
Vascular Ring ◽  
Vascular Lesion ◽  
Aberrant Right Subclavian Artery ◽  
Successful Operation ◽  
Diverticulum Of Kommerell

Diverticulum of Kommerell is a congenital anomaly in the development of the primitive embryonic aortic vasculature resulting in either an aberrant left subclavian artery (ALSA) from a right-sided aortic arch (RSAA) or an aberrant right subclavian artery (ARSA) from a left-sided aortic arch (LSAA). Kommerell’s diverticulum (KD), is extremely rare in the general population having prevalence of 0.7–2.0 %. KD with true aneurysmal dilatation like any vascular lesion of the thoracic aorta weakens the vasculature and increases the risk of aortic rupture. Timely surgical intervention is of paramount importance in most of these cases. Variable clinical presentations in patients with KD are either a result of compression of some mediastinal organs or strangulation by the vascular ring from the aberrant subclavian artery (ASA). We report a case of a 39 years old Chinese female with a rare co-existence of a huge KD with a microaneurysm, an aberrant right subclavian artery (ARSA), and ventricular septal defect (VSD). She underwent a successful operation and all her pre-surgical symptoms disappeared.

scholarly journals Surgical correction of coarctation of the aorta featuring an incomplete circle of Willis

2020 ◽  
Vol 30 (5) ◽  
pp. 794-795
Author(s):  
Aiko Sonobe ◽  
Hideyuki Kato ◽  
Bryan J Mathis ◽  
Yuji Hiramatsu
Keyword(s):  
Subclavian Artery ◽  
Coarctation Of The Aorta ◽  
Circle Of Willis ◽  
Surgical Correction ◽  
Surgical Strategy ◽  
Aberrant Right Subclavian Artery ◽  
Coarctation Of Aorta ◽  
Rare Anomaly ◽  
Cerebral Malperfusion

Abstract Although devastating complications during simple coarctation of aorta repair now occur less frequently, some unique cases still require extra caution. Here, we report a case of coarctation of the aorta with a rare anomaly in the circle of Willis and an aberrant right subclavian artery, which required a thorough surgical strategy that prevented cerebral malperfusion.

scholarly journals VP32.03: Aberrant right subclavian artery as only finding in a mosaic Turner syndrome

2020 ◽  
Vol 56 (S1) ◽  
pp. 188-189
Author(s):  
A.S. Silva ◽  
P.A. Costa ◽  
A. Fontoura Oliveira ◽  
S. Azevedo ◽  
M. Torrão ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Subclavian Artery ◽  
Aberrant Right Subclavian Artery

scholarly journals Incidental finding of aberrant subclavian artery during computed tomography scan

2015 ◽  
Vol 3 (4) ◽  
pp. 162-164
Author(s):  
Mubarak Mohd Yusof ◽  
Sharini Shamsudin
Keyword(s):  
Computed Tomography ◽  
Weight Loss ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Left Subclavian Artery ◽  
Incidental Finding ◽  
Right Aortic Arch ◽  
Aberrant Right Subclavian Artery ◽  
Computed Tomography Scan ◽  
Tomography Scan

Two cases of aberrant subclavian arteries were detected incidentally during computed tomography scan of the thorax for other medical conditions. The patients did not have weight loss or dysphagia lusoria. The origin and course of theaberrant subclavian arteries are related to the anomaly of the aortic arch. The variations of aberrant right subclavian artery with left aortic arch and aberrant left subclavian artery with right aortic arch on computed tomography are discussed.Journal of Kathmandu Medical CollegeVol. 3, No. 4, Oct.-Dec., 2014Page: 162-164

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