scholarly journals EP04.29: Prenatal diagnosis of Turner syndrome in a case of isolated aberrant right subclavian artery

2017 ◽  
Vol 50 ◽  
pp. 277-277
Author(s):  
A. Corbacioglu Esmer ◽  
L. Kupelioglu
Keyword(s):  
Prenatal Diagnosis ◽  
Turner Syndrome ◽  
Subclavian Artery ◽  
Aberrant Right Subclavian Artery

Is it useful to evaluate the presence of aberrant right subclavian artery in prenatal diagnosis ultrasounds?

2020 ◽  
Vol 47 (1) ◽  
pp. 359-367
Author(s):  
Cristina Martínez‐Payo ◽  
Elena Suanzes ◽  
Yolanda Nieto‐Jiménez ◽  
Miguel Ruiz de Azúa ◽  
Ana Siles ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Subclavian Artery ◽  
Aberrant Right Subclavian Artery

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

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).

scholarly journals Importance in prenatal diagnosis of the detection of isolated aberrant right subclavian artery

2014 ◽  
Vol 22 (1) ◽  
pp. 61-63
Author(s):  
Özge Kızılkale ◽  
Canan Yılmaz Torun ◽  
Mert Yeşiladalı ◽  
Pınar Cenksoy ◽  
Gazi Yıldırım ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Subclavian Artery ◽  
Aberrant Right Subclavian Artery

scholarly journals Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities

2021 ◽  
Vol 43 (06) ◽  
pp. 452-456
Author(s):  
Cátia Sofia Ferreira Pinto Lourenço ◽  
Ana Luísa Carriço ◽  
Francisco Manuel da Silva Valente
Keyword(s):  
Congenital Heart Disease ◽  
Prenatal Diagnosis ◽  
Subclavian Artery ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Aberrant Right Subclavian Artery ◽  
Fetal Ultrasound ◽  
Genetic Studies ◽  
Fetal Medicine ◽  
Genetic Abnormalities

Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed a malformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

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