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

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
E Klaskova ◽  
P Vrtel ◽  
R Vrtel ◽  
K Adamova ◽  
D.I.T.A Vrbicka ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Genomic Imprinting ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
Congenital Heart Defects ◽  
Aortic Coarctation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Funding Source

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

Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects

2016 ◽  
Vol 12 (3) ◽  
pp. 261-269 ◽  
Author(s):  
Talha Niaz ◽  
Joseph T. Poterucha ◽  
Jonathan N. Johnson ◽  
Cecilia Craviari ◽  
Thomas Nienaber ◽  
...  
Keyword(s):  
Young Adult ◽  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects

scholarly journals Bicuspid Aortic Valve: Morphology, Clinic, Diagnosis, Complications

2021 ◽  
Vol 17 (1) ◽  
pp. 111-118
Author(s):  
Y. L. Trysvetava
Keyword(s):  
Surgical Treatment ◽  
Aortic Valve ◽  
Bicuspid Aortic Valve ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Treatment Technique ◽  
Aortic Lesion ◽  
Valve Dysfunction ◽  
Echocardiographic Study

Bicuspid aortic valve refers to common (0.5-2% of the population) congenital heart defects that are asymptomatic throughout life, with valve dysfunction and/or aortopathy (pathia- from Greek pathos disease), manifested by expansion, aneurysm or dissection of the vessel. The pathogenesis of the formation of a bicuspid valve is unknown, a genetic component is noted, since the defect develops as sporadic, familial, in combination with other congenital heart defects and with hereditary connective tissue disorders. Morphogenetic studies suggest that different phenotypes of bicuspid aortic valve can be considered as etiologically different diseases, with valve dysfunction or valve dysfunction and aortopathy. Aortic lesion is characterized by phenotypic heterogeneity due to genetic or hemodynamic features. Researchers are discussing the relationship between the phenotype of the bicuspid aortic valve and aortopathy to predict the course of the disease and select the optimal surgical treatment technique. Diagnosis of heart disease is based on the results of an echocardiographic study, magnetic resonance imaging. Surgical treatment is performed for significant hemodynamic disturbances resulting from insufficiency or stenosis of the aortic valve, in cases of infective endocarditis, the risk of which is high, with aneurysm or aortic dissection.

scholarly journals Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

2013 ◽  
Vol 50 (10) ◽  
pp. 662-665 ◽  
Author(s):  
Carolyn Bondy ◽  
Vladimir K Bakalov ◽  
Clara Cheng ◽  
Laura Olivieri ◽  
Douglas R Rosing ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
X Chromosome ◽  
Aortic Coarctation

scholarly journals Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

2016 ◽  
Vol 170 (12) ◽  
pp. 3157-3164 ◽  
Author(s):  
Siddharth K. Prakash ◽  
Carolyn A. Bondy ◽  
Cheryl L. Maslen ◽  
Michael Silberbach ◽  
Angela E. Lin ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Structural Variants

scholarly journals Quadricuspid aortic valve: an unexpected echocardiographic finding.

2016 ◽  
Vol 18 (2) ◽  
pp. 250 ◽  
Author(s):  
Carlos Manuel Aboitiz-Rivera ◽  
Ruben Blachman-Braun ◽  
Mario Fernando Lanza ◽  
Roberto Berebichez-Fridman ◽  
María José Díaz-Huízar ◽  
...  
Keyword(s):  
Aortic Valve ◽  
General Population ◽  
Literature Review ◽  
Aortic Valve Replacement ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Quadricuspid Aortic Valve ◽  
Hispanic Population ◽  
Echocardiographic Finding

Quadricuspid aortic valve (QAV) is an anatomic valvular variant, with a prevalence of 0.008% to 0.033% in the general population, and 1.46% in patients that undergo aortic valve replacement. The QAV can be an isolated valvular abnormality or associated  with other congenital heart defects. In this article, we present three of the few reported cases of QAV in the Hispanic population,  all of which  were asymptomatic and without evidence of hemodynamic alterations or other associated heart defects. Additionally a literature review is provided. 

scholarly journals X‐chromosome association studies of congenital heart defects

2019 ◽  
Vol 182 (1) ◽  
pp. 250-254
Author(s):  
A. J. Agopian ◽  
Thanh T. Hoang ◽  
Elizabeth Goldmuntz ◽  
Hakon Hakonarson ◽  
Fadi I. Musfee ◽  
...  
Keyword(s):  
X Chromosome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Association Studies ◽  
Heart Defects ◽  
Chromosome Association

CABG With Internal Thoracic Artery in Children With Congenital Heart Defects: A Good Option When It Is the Only One

2020 ◽  
Vol 11 (6) ◽  
pp. 748-752
Author(s):  
Christian Kreutzer ◽  
Gustavo Bastianelli ◽  
Benjamin Chiostri ◽  
Guillermo Gutierrez ◽  
Daniel Alberto Klinger ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Aortic Valve ◽  
Valve Replacement ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Internal Thoracic Artery ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Right Ventricular Outflow Tract ◽  
Pulmonary Valve Replacement

Objective: Coronary complications may present during or after repair of congenital heart defects. We report coronary artery bypass grafting (CABG) by internal thoracic artery (ITA) grafts to either coronary artery in children with congenital anomalies. Methods: Four cases who underwent CABG with ITA grafts from March 2016 to March 2020 were retrospectively reviewed. Results: At the time of operation, patient’s ages and weight were 7 and 20 months old and 14 and 15 years old and 6.5, 10, 40, and 45 kg, respectively. Diagnosis were anomalous origin of the left coronary artery from the pulmonary artery with leftward lateral ostial origin (n = 1), neopulmonary annulus hypoplasia post arterial switch with contiguous right coronary artery (RCA) arising from the left facing sinus (n = 1), RCA stenosis after the Ross procedure (n = 1), and right coronary ostial obstruction after aortic valve replacement in truncus arteriosus (n = 1). Procedures included left ITA to left coronary ostium (n = 1), right ventricular outflow tract (RVOT) enlargement with pulmonary valve replacement with left ITA to RCA (n = 1), RVOT enlargement with pulmonary valve replacement with right ITA to RCA (n = 1), and aortic valve re-replacement, pulmonary valve replacement, and right ITA to RCA (n = 1). At last follow-up, all four patients were asymptomatic, with normal ventricular function, and all grafts were patent. Conclusions: The use of CABG in children is valuable alternative when dealing with complex coronary anatomy not suitable for classic repairs. In children, graft patency is required to be longer than 50 years; therefore, use of arterial grafts seems mandatory.

Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging

2010 ◽  
Vol 20 (2) ◽  
pp. 191-200 ◽  
Author(s):  
Kristian Havmand Mortensen ◽  
Britta Eilersen Hjerrild ◽  
Niels Holmark Andersen ◽  
Keld Ejvind Sørensen ◽  
Arne Hørlyck ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Aortic Valve ◽  
Head And Neck ◽  
Aortic Arch ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Aortic Coarctation ◽  
Resonance Imaging ◽  
Aortic Dilation

AbstractBackgroundEctatic aortopathy and arterial abnormalities cause excess morbidity and mortality in Turner syndrome, where a state of vasculopathy seemingly extends into the major head and neck branch arteries.ObjectiveWe investigated the prevalence of abnormalities of the major intrathoracic arteries, their interaction with arterial dimensions, and their association with karyotype.DesignMagnetic resonance imaging scans determined the arterial abnormalities as well as head and neck branch artery and aortic dimensions in 99 adult women with Turner syndrome compared with 33 healthy female controls. Echocardiography determined aortic valve morphology.ResultsIn Turner syndrome, the relative risk of any congenital abnormality was 7.7 (p = 0.003) and 6.7 of ascending aortic dilation (p = 0.02). A bovine aortic arch was seen in both Turner syndrome and controls. Other abnormalities were only encountered in Turner syndrome: elongated transverse aortic arch (47%), bicuspid aortic valve (27%), aortic coarctation (13%), aberrant right subclavian artery (8%), and aortic arch hypoplasia (2%). The innominate and left common carotid arteries were enlarged in Turner syndrome (p < 0.001). Significant associations were first, bicuspid aortic valve with aortic coarctation, elongated transverse aortic arch, and ascending aortic dilation; second, aortic coarctation with elongated aortic arch and descending aortic dilation; third, 45,X with aortic coarctation, elongated transverse aortic arch and ascending aortic dilation; and fourth, branch artery dilation with bicuspid aortic valve, aortic coarctation, elongated transverse aortic arch and 45,X.ConclusionAn increased risk of arterial abnormalities, aortic dilation, and enlargement of the branch arteries was found in Turner syndrome without distinct patterns of co-segregation.

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