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.

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).

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

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 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 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

Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome

2020 ◽  
Vol 30 (5) ◽  
pp. 663-667 ◽  
Author(s):  
Emanuele Monda ◽  
Adelaide Fusco ◽  
Daniela Melis ◽  
Martina Caiazza ◽  
Felice Gragnano ◽  
...  
Keyword(s):  
Young Adult ◽  
Family History ◽  
Aortic Valve ◽  
Marfan Syndrome ◽  
Bicuspid Aortic Valve ◽  
Young Patients ◽  
P Value ◽  
Z Score ◽  
Aortic Sinus ◽  
History Of

AbstractBackground:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

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.

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