Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Donadille, Bruno; Rousseau, Alexandra; Zénaty, Delphine; Cabrol, Sylvie; Courtillot, Carine; Samara-Boustani, Dinane; Salenave, Sylvie; Monnier‐Cholley, Laurence; Meuleman, Catherine; Jondeau, Guillaume; Iserin, Laurence; Duranteau, Lise; Cabanes, Laure; Bourcigaux, Nathalie; Bonnet, Damien; Bouchard, Philippe; Chanson, Philippe; Polak, Michel; Touraine, Philippe; Lebouc, Yves; Carel, Jean‐Claude; Léger, Juliane; Christin-Maître, Sophie

doi:10.1530/eje-12-0434

Cited by 41 publications

(34 citation statements)

References 24 publications

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“…Statistically significant relationships between 45,X karyotype and BAV, as well as between 45,X and aortic dilatation, were confirmed in the French cohort study and a more frequent cardiovascular follow-up for patients with X monosomy was strongly recommended [14]. Mortesen et al did not find a direct influence of karyotype on the diameter of aorta, but it is probably associated with the indirect influence via bicuspid aortic valve and aortic coarctation [48].…”

Section: Prace Poglądowementioning

confidence: 84%

“…These findings are associated with various connective tissue diseases such as Marfan or Turner syndromes, etc. There has been some research about the influence of disruption of the transforming growth factor b pathway [14], which causes lesion of ascending aorta [23]. Further research into the genetic aetiology of the cardiovascular phenotype of TS is needed [37].…”

Section: Prace Poglądowementioning

confidence: 99%

“…Epidemiological studies have revealed a three-fold higher mortality in the TS population than the general population, because of the cardiovascular events affecting young women [9,14]. Cardiovascular findings occurring in TS might be congenital or acquired [18].…”

Section: Cardiovascular Phenotype In Turner Syndromementioning

confidence: 99%

“…Monitoring is based on expert consensus and includes clinical and laboratory evaluation, blood pressure measurement, echocardiography, and cardiovascular magnetic resonance imaging [3,14,27] but the follow-up remains quite poor. This paper is focused on the aortic events which are characteristic for TS.…”

Section: Cardiovascular Phenotype In Turner Syndromementioning

confidence: 99%

“…The DuBois and DuBois formula is used to estimate the approximate body surface area for adults [14].…”

Section: Prace Poglądowementioning

confidence: 99%

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Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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Turner syndrome is a rare genetic disorder which impairs women's growth, reproductive function, cardiovascular development and other functions. This syndrome has been proposed as an independent risk marker for cardiovascular disease. Despite this, life-threatening cardiovascular outcomes affecting young women are dismissed because of incomplete follow up. During assessment due to their smaller stature, it should be noted that, although the ascending aorta diameter is normal in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta. Based on recent guidelines and the latest studies, there is new evidence on the use of magnetic resonance imaging in diagnosing aortic lesions. New management possibilities of aortopathies have also been discussed. This approach should optimise medical care for women with Turner syndrome, but many areas of uncertainty still remain in the diagnosis and management of this syndrome, and new prospective studies are needed. StreszczenieZespół Turnera jest rzadko spotykanym schorzeniem o podłożu genetycznym u kobiet, u których występują między innymi zaburzenia wzrastania, płodności oraz zaburzenia w rozwoju układu sercowo-naczyniowego. Obecnie uważa się, że zespół Turnera jest niezależnym czynnikiem ryzyka rozwoju chorób układu sercowo-naczyniowego. Pomimo istotnego ryzyka rozwoju powikłań, które mogą nawet zagrażać życiu młodych pacjentek, wiele z nich odsyłanych jest do domu bez pogłębionej diagnostyki w kierunku zaburzeń w układzie sercowo-naczyniowym. Należy zauważyć, że chociaż wymiary aorty wstępującej są u wielu pacjentek obarczonych zespołem Turnera prawidłowe, to po uwzględnieniu rzeczywistych wymiarów ciała pacjentki można stwierdzić, że u części z nich aorta jest poszerzona. Opublikowane ostatnio wyniki badań oraz zalecenia kliniczne wskazują na przydatność rezonansu magnetycznego (MRI, magnetic resonance imaging) w diagnostyce zmian organicznych aorty. W publikacji omówiono także nowe możliwości terapeutyczne w przypadku występowania zmian w aorcie, co mogłoby usprawnić leczenie pacjentek z zespołem Turnera. W dziedzinie diagnostyki i leczenia tego zaburzenia genetycznego istnieje jednak nadal wiele nierozwiązanych zagadnień, dlatego też konieczne jest prowadzenie dalszych badań, także o charakterze prospektywnym. Epidemiology, diagnosis and genetics of Turner syndromeTurner syndrome (TS) is a rare congenital disorder caused by sex chromosome haploinsufficiency in a phenotypic female, associated with characteristic clinical features: short stature, primary amenorrhoea and cardiovascular pathology [1,2].The prevalence of TS is 50 per 100,000 live born females in Caucasian populations [2,7]. Prenatal prevalence is much higher than the postnatal, because of the frequent intrauterine mortality [1,37]. If TS is suspected in the intrauterine period, postnatal confirmation must be done [3]. Postnatal diagnosis requires a standard 30-cell karyotype which identifies at least 10% mosaicism with 95% confidence [5,6]. Specific clini...

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Section: Prace Poglądowementioning

confidence: 84%

Section: Prace Poglądowementioning

confidence: 99%

Section: Cardiovascular Phenotype In Turner Syndromementioning

confidence: 99%

Section: Cardiovascular Phenotype In Turner Syndromementioning

confidence: 99%

“…The DuBois and DuBois formula is used to estimate the approximate body surface area for adults [14].…”

Section: Prace Poglądowementioning

confidence: 99%

See 3 more Smart Citations

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation

Pater

Gutmark‐Little

Tretter

et al. 2020

American J of Med Genetics Pt A

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Turner syndrome is associated with an increased risk of aortic aneurysms and dissection. Recent 2017 clinical care guidelines recommend medical therapy to treat aortic dilatation, although whether this slows dilatation is unknown. We aimed to describe a pre‐guideline cohort of Turner syndrome patients with aortic dilatation, the rate of dilatation following diagnosis, and post therapy dilatation rates. We conducted a retrospective review of Turner syndrome patients with a dilated aortic root or ascending aorta by current definitions. In total, 40 patients were included with 22 treated patients. Most patients had 45,X karyotype, were white, non‐Hispanic, and received both growth hormone and estrogen. Except for hypertension, there were no differences in risk factors among treated and untreated groups. Bicuspid aortic valve was very common. Treatment group patients had significantly more dilated ascending aortas by absolute measurements and aortic size index. In an adjusted model, there was minimal change in aortic measures over time and this was not associated with medication use. In conclusion, in this cohort, Turner syndrome patients with aortic dilatation were more likely to be treated if they had hypertension and if they met multiple dilatation criteria. Further study is needed to establish medical therapy efficacy on dilatation progression.

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Human Genetics of Congenital Heart Defects

Wilsdon,

Loughna

2024

Advances in Experimental Medicine and Biology

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Cardiovascular findings and management in Turner syndrome: insights from a French cohort

Cited by 41 publications

References 24 publications

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Zaburzenia w budowie aorty u pacjentek z zespołem Turnera — nowe metody diagnostyki i leczenia

Clinical characteristics and rate of dilatation in Turner syndrome patients treated for aortic dilatation

Human Genetics of Congenital Heart Defects

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