Assessing and addressing cardiovascular risk in adults with Turner syndrome

Turtle, Emma; Sule, Ashish Anil; Bath, Louise; Denvir, Martin A.; Gebbie, Ailsa; Mirsadraee, Saeed; Webb, David J.

doi:10.1111/cen.12104

Cited by 50 publications

(61 citation statements)

References 57 publications

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“…Acquired cardiovascular problems in women with TS may be caused by a number of risk factors, including central obesity, impaired glucose tolerance, insulin resistance, and hyperlipidaemia [8,12,15,16,18]. More than 30% of young girls and adolescents, as well as 50% of adults with TS, are mildly hypertensive on 24-hour ambulatory blood pressure measurements, and an additional 50% display abnormal circadian blood pressure profile in the same age group [7,11].…”

Section: Cardiovascular Phenotype In Turner Syndromementioning

confidence: 99%

“…There is more data showing that the prevalence of ascending aortic dilation is about 15-30% in TS patients, and usually it is asymptomatic [6,12,33]. Despite a normal ascending aortic diameter in absolute terms, after indexation for body size, patients with Turner syndrome may have a dilated aorta [10,20,37,39,44].…”

Section: Prace Poglądowementioning

confidence: 99%

“…In patients with Turner syndrome, aortic dilatation is present when the maximum aortic diameter is greater than 2.0 cm/m 2 , and at ≥ 2.5 cm/m 2 there is a high risk of aortic dissection [12,20] Paediatricians usually adjust aortic diameters to body surface area using Roman nomograms or more recent normative data [37]. The DuBois and DuBois formula is used to estimate the approximate body surface area for adults [14].…”

Section: Prace Poglądowementioning

confidence: 99%

“…Risk for acute aortic dissection is increased by more than 100-fold in young and middle-aged women with TS [10,12,37]. Aortic dissection at a younger age is seen only in patients with connective tissue disorders (Table II) caused by genetic mutations [38].…”

Section: Aortic Dissection In Turner Syndromementioning

confidence: 99%

“…Transthoracic echocardiography visualisation can be adequate in many cases under expert cardiologist guidance, but it is not the technique of choice for overall assessment of the aorta; magnetic resonance imaging, which allows better visualisation of thoracic aorta, should be performed instead [6,12,39]. Recent guidelines suggest that girls who have only had echocardiography should undergo MRI when old enough to cooperate with personnel during the procedure and then every 5-10 years as adults [3].…”

Section: Radiological Evaluation Of Cardiovascular Abnormalities In Tmentioning

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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