scholarly journals TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

PLoS Genetics ◽  
2018 ◽  
Vol 14 (10) ◽  
pp. e1007692 ◽  
Author(s):  
Holly Corbitt ◽  
Shaine A. Morris ◽  
Claus H. Gravholt ◽  
Kristian H. Mortensen ◽  
Rebecca Tippner-Hedges ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Risk Genes

scholarly journals Bicuspid aortic valve morphology may have prognostic value in fetal Turner syndrome

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P2110-P2110
Author(s):  
K. Van Engelen ◽  
M. M. Bartelings ◽  
A. C. Gittenberger-De Groot ◽  
M. J. H. Baars ◽  
A. V. Postma ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Prognostic Value ◽  
Valve Morphology

scholarly journals Dilatation of the Ascending Aorta in Turner Syndrome: Influence of Bicuspid Aortic Valve Morphology and Body Composition

2021 ◽  
Vol 30 (1) ◽  
pp. e29-e36 ◽  
Author(s):  
Andrew Lin ◽  
Ashray Rajagopalan ◽  
Hanh H. Nguyen ◽  
Anthony J. White ◽  
Amanda J. Vincent ◽  
...  
Keyword(s):  
Body Composition ◽  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Ascending Aorta ◽  
Valve Morphology

Bicuspid Aortic Valve Morphology and Associated Cardiovascular Abnormalities in Fetal Turner Syndrome: A Pathomorphological Study

2014 ◽  
Vol 36 (1) ◽  
pp. 59-68 ◽  
Author(s):  
Klaartje van Engelen ◽  
Margot M. Bartelings ◽  
Adriana C. Gittenberger-de Groot ◽  
Marieke J.H. Baars ◽  
Alex V. Postma ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Valve Morphology ◽  
Cardiovascular Abnormalities

Abstract 3189: Prevalence of Bicuspid Aortic Valve in Turner Syndrome

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Vandana Sachdev ◽  
Lea Ann Matura ◽  
Stanislav Sidenko ◽  
Vincent Ho ◽  
Andrew Arai ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Aortic Root ◽  
Ascending Aorta ◽  
Aortic Dilatation ◽  
Aortic Valves ◽  
Number Of Patients ◽  
Valve Structure ◽  
Asymptomatic Individuals

Women with Turner syndrome (TS) have an increased risk of congenital cardiovascular defects. Previous studies have reported a 10 –20% prevalence rate of bicuspid aortic valves and there are increasing reports of a vasculopathy that predisposes patients to aortic dilatation and dissection. This prospective study aimed to characterize aortic valve and aortic root structure in unselected asymptomatic individuals with TS. A total of 253 females aged 7– 67 years with karyotype proven TS were examined. Transthoracic echocardiography revealed a normal tricuspid aortic valve (TAV) in 162, a ‘probable TAV’ in 8 subjects, a bicuspid aortic valve (BAV) in 65 and ‘probable BAV’ in 3 subjects. The aortic valve could not be visualized by echocardiography in 15/253 or 6%. Magnetic resonance imaging (MRI) revealed valve structure in 11/12 of the probable cases (all confirmatory of the ‘probable’ diagnosis) and 12/15 of the non-visualized cases (8 BAV and 4 TAV), so only 3/253 subjects could not be visualized by either modality. The aortic valve was bicuspid in 76 of the 250 adequately imaged subjects (30%). Peak aortic valve flow was higher in BAV subjects (1.72±0.07 vs. 1.90v0.03 m/sec, P=0.0002), with one case of significant aortic stenosis. Among subjects with a BAV, aortic regurgitation was moderate or greater in ∼15%. Aortic diameters at the annulus, sinuses of Valsalva, sinotubular junction and ascending aorta were all significantly greater in the BAV group. Thirty patients in the BAV group (12%) had aortic root diameters that were outside of the 95% normal confidence limits based on Roman nomograms. Ascending aortic diameters by echo and MRI were highly correlated (r=0.77). In summary, echocardiography supplemented with MRI reveals an extraordinarily high prevalence of abnormal aortic valves in asymptomatic subjects with TS. The abnormal valve structure is associated with higher peak flows, evidence of clinically significant valvular dysfunction, and widening of the ascending aorta in a significant number of patients. All girls and women with TS should have careful echocardiographic evaluation upon diagnosis to identify the one in three asymptomatic individuals with an abnormal valve requiring monitoring for aortic root dilatation and valvular dysfunction.

Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome

1983 ◽  
Vol 102 (1) ◽  
pp. 47-50 ◽  
Author(s):  
Martha J. Miller ◽  
Mitchell E. Geffner ◽  
Barbara M. Lippe ◽  
Robert M. Itami ◽  
Solomon A. Kaplan ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
High Incidence

scholarly journals Moderate Aortic Enlargement and Bicuspid Aortic Valve Are Associated With Aortic Dissection in Turner Syndrome

Circulation ◽  
2012 ◽  
Vol 126 (18) ◽  
pp. 2220-2226 ◽  
Author(s):  
Misty Carlson ◽  
Nathan Airhart ◽  
Leo Lopez ◽  
Michael Silberbach
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve

scholarly journals Growth Hormone Treatment and Aortic Dimensions in Turner Syndrome

2006 ◽  
Vol 91 (5) ◽  
pp. 1785-1788 ◽  
Author(s):  
Carolyn A. Bondy ◽  
Phillip L. Van ◽  
Vladimir K. Bakalov ◽  
Vincent B. Ho
Keyword(s):  
Aortic Valve ◽  
Turner Syndrome ◽  
Bicuspid Aortic Valve ◽  
Hormone Treatment ◽  
Treated Group ◽  
Aortic Diameter ◽  
Gh Treatment ◽  
Cross Sectional ◽  
Increased Risk ◽  
History Of

Background: In recent years many girls with Turner syndrome (TS) have been treated with supraphysiological doses of GH to increase adult height. In addition to promoting statural growth, GH may have direct effects on the cardiovascular system. Objective: We sought to determine whether GH treatment affects aortic diameter in girls with TS because there is an increased risk for aortic dilation and dissection in this syndrome. Methods: In a retrospective, cross-sectional study, we compared ascending and descending aortic diameters measured by magnetic resonance imaging in GH-treated (n = 53) vs. untreated (n = 48) patients with TS participating in a National Institutes of Health protocol between 2001 and 2004. Results: The average duration of GH treatment was 4.7 with se 0.4 yr (range 2–11 yr). The two groups were similar in age and weight, but GH-treated subjects were on average 8 cm taller (P = 0.002). The diameter of the ascending aorta was increased by 7.3% and descending aorta by 8.9% in the GH-treated group. However, after correction for age, height, weight, and presence of bicuspid aortic valve and coarctation, using a multiple regression, neither history of GH treatment nor the length of GH treatment had an effect on the aortic diameter. Weight (P = 0.02), height (P = 0.001), and presence of bicuspid aortic valve (P = 0.0001) were associated with larger ascending aortic diameter, whereas age (P = 0.008), height (P = 0.02), and history of coarctation (P = 0.006) were associated with larger descending aortic diameter. Conclusions: GH treatment of girls with TS does not seem to affect ascending or descending aortic diameter above the increase related to the larger body size.

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

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