Elongated transverse aortic arch in Turner syndrome: a useful marker for cardiovascular risk?

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).

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Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension

Heart and Vessels ◽

10.1007/s00380-014-0529-0 ◽

2014 ◽

Vol 30 (5) ◽

pp. 618-625 ◽

Cited By ~ 17

Author(s):

Katya De Groote ◽

Daniël Devos ◽

Koen Van Herck ◽

Laurent Demulier ◽

Wesley Buysse ◽

...

Keyword(s):

Risk Factor ◽

Aortic Arch ◽

Turner Syndrome

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The Relationship of Periaortic Fat Thickness and Cardiovascular Risk Factors in Children with Turner Syndrome

Pediatric Cardiology ◽

10.1007/s00246-015-1098-4 ◽

2015 ◽

Vol 36 (5) ◽

pp. 925-929 ◽

Cited By ~ 4

Author(s):

Nesibe Akyürek ◽

Mehmet Emre Atabek ◽

Beray Selver Eklioglu ◽

Hayrullah Alp

Keyword(s):

Risk Factors ◽

Cardiovascular Risk ◽

Cardiovascular Risk Factors ◽

Turner Syndrome ◽

Fat Thickness ◽

Relationship Of ◽

The Relationship ◽

Periaortic Fat

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P109 PROGRESSION OF AORTIC ARCH CALCIFICATION AFTER KIDNEY TRANSPLANT AND ITS IMPORTANCE IN PREDICTING CARDIOVASCULAR RISK: SINGLE-CENTER 2-YEAR FOLLOW-UP STUDY

Artery Research ◽

10.1016/j.artres.2017.10.140 ◽

2017 ◽

Vol 20 (C) ◽

pp. 91

Author(s):

Agne Laucyte-Cibulskiene ◽

Evelina Boreikaite ◽

Gediminas Aucina ◽

Migle Gudynaite ◽

Ilona Rudminiene ◽

...

Keyword(s):

Cardiovascular Risk ◽

Aortic Arch ◽

Kidney Transplant ◽

Single Center ◽

Follow Up Study ◽

Aortic Arch Calcification

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Elongation of transverse aortic arch; not specific for Turner Syndrome

Clinical Anatomy ◽

10.1002/ca.22816 ◽

2017 ◽

Vol 30 (5) ◽

pp. 555-556 ◽

Cited By ~ 1

Author(s):

Hasan Yiğit ◽

Elif Ergün

Keyword(s):

Aortic Arch ◽

Turner Syndrome

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Pregnancy and Cardiovascular Risk for Women with Turner Syndrome

Women s Health ◽

10.2217/whe.14.34 ◽

2014 ◽

Vol 10 (4) ◽

pp. 469-476 ◽

Cited By ~ 11

Author(s):

Carolyn Bondy

Keyword(s):

Cardiovascular Risk ◽

Turner Syndrome

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Abnormal Aortic Wall Properties in Women with Turner Syndrome

Aorta ◽

10.1055/s-0040-1714384 ◽

2020 ◽

Vol 08 (05) ◽

pp. 121-131

Author(s):

Lidia R. Bons ◽

Allard T. Van Den Hoven ◽

Maira Malik ◽

Annemien E. Van Den Bosch ◽

Jacky S. McGhie ◽

...

Keyword(s):

Pulse Wave Velocity ◽

Aortic Arch ◽

Turner Syndrome ◽

Wave Velocity ◽

Aortic Wall ◽

Pulse Wave ◽

Control Group ◽

Aortic Tissue ◽

Aortic Dilatation ◽

Significant Difference

Abstract Background Turner syndrome (TS) is associated with aortic dilatation and dissection, but the underlying process is unclear. The aim of this study was to investigate the elastic properties and composition of the aortic wall in women with TS. Methods In this cross-sectional study, 52 women with TS aged 35 ± 13 years (50% monosomy, 12 with bicuspid aortic valve [BAV] and 4 with coarctation) were investigated using carotid-femoral pulse wave velocity (CF-PWV) by echocardiography and ascending aortic distensibility (AAD) and aortic arch pulse wave velocity (AA-PWV) by magnetic resonance imaging (MRI). As control group, 13 women with BAV without TS and 48 healthy patients were included. Results Women with TS showed a higher AA-PWV (β = 1.08, confidence interval [CI]: 0.54–1.62) after correcting for age and comorbidities compared with controls. We found no significant difference in AAD and CF-PWV. In women with TS, the presence of BAV, coarctation of the aorta, or monosomy (45, X) was not associated with aortic stiffness. In addition, aortic tissue samples were investigated with routine and immunohistochemical stains in five additional women with TS who were operated. The tissue showed more compact smooth muscle cell layers with abnormal deposition and structure of elastin and diminished or absent expression of contractile proteins desmin, actin, and caldesmon, as well as the progesterone receptor. Conclusion Both aortic arch stiffness measurements on MRI and histomorphological changes point toward an inherent abnormal thoracic aortic wall in women with TS.

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