Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome

Elsheikh, Mohgah; Casadei, Barbara; Conway, Gerard S.; Wass, John

doi:10.1046/j.1365-2265.2001.01154.x

Cited by 155 publications

(109 citation statements)

References 40 publications

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“…Aortic root dilatation does not appear to be related to atherosclerosis and is more likely to be due to a mesenchymal defect caused by genetic disorder [32,35]. The most common histological finding of the dilated aorta is elastic fibber fragmentation and cystic medial degeneration [10,21,30,31,38].…”

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: 99%

“…However, aortic root dilatation may occur in the absence of risk factors in approximately 5% of females with TS, indicating that all females with TS should be monitored for aortic root dilatation [32,34,35,40].…”

Section: Prace Poglądowementioning

confidence: 99%

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

Kriksciuniene

Ostrauskas

Žilaitienė

2015

Endokrynologia Polska

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“…The concept of chromosomal imbalance, and thus disturbed pairing during mitosis, has also been implicated (320). An increase in aortic root diameter, which is a risk factor for developing aortic dilatation and later rupture, is often seen and probably depends on blood pressure (321). However, prospective studies are needed in order to study how the risk of aortic dissection can be reduced.…”

Section: Congenital Malformations Of the Heartmentioning

confidence: 99%

“…How should a person with 5% (or less) 45,X cells and 95% 46,XX cells be considered, knowing that normally a karyotype is performed on Table 1 Detailed list of abnormalities associated with Turner syndrome with the tentative frequency of a specific abnormality given as a percentage. The table is compiled from different sources (8,55,178,296,305,307,321,350).…”

Section: Introductionmentioning

confidence: 99%

Epidemiological, endocrine and metabolic features in Turner syndrome

2004

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Turner syndrome is one of the more common genetic disorders, associated with abnormalities of the X chromosome, and occurring in about 50 per 100 000 liveborn girls. Turner syndrome is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids, and infertility. A number of other signs and symptoms are seen more frequently with the syndrome. Morbidity and mortality are increased. The average intellectual performance is within the normal range. A number of recent studies have provided new insights with respect to epidemiology, cardiology, endocrinology and metabolism. Treatment with GH during childhood and adolescence allows a considerable gain in adult height, although verylong-term consequences of this treatment are not clear. Puberty has to be induced in most cases, and female sex hormone replacement therapy is given during the adult years. The proper dose of hormone replacement therapy (HRT) has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. Since the risk of cardiovascular and endocrinological disease is clearly elevated, proper care during adulthood is emphasized. In summary, Turner syndrome is a condition associated with a number of diseases and conditions which are reviewed in the present paper.

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“…Review of the literature revealed no reports of a woman with Turner syndrome with aortic dissection at such a young age unless coarctation of the aorta was present. [23][24][25] Since she has the "affected" 3p haplotype associated with disease in the family, the early onset of her aortic disease may be due to inheriting two genetic conditions that predispose her to this disease. A second woman (III:32) with Turner syndrome in the family had both bicuspid aortic valve and coarctation of the aorta but did not have aortic dilation or dissection at the age of 43 years, consistent with her not inheriting the "affected" 3p haplotype.…”

Section: Discussionmentioning

confidence: 99%

Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections ( TAAD2 ) to 3p24–25

et al. 2003

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Background-Familial thoracic aortic aneurysms and dissections (TAAD) occur as part of known syndromes such as Marfan syndrome but can also be inherited in families in an autosomal dominant manner as an isolated condition. Previous studies have mapped genes causing nonsyndromic familial TAAD to 5q13-15 (TAAD1) and 11q23.2-q24 (FAA1). Further genetic heterogeneity for the condition was evident by the presence of TAAD in some families not linked to these known loci. Methods and Results-A 4-generation family with dominant mode of inheritance of TAAD was studied. Affected status was determined by dilation of the ascending aorta, surgical repair of an aneurysm or dissection, or death as the result of aortic dissection. None of the family members evaluated met the diagnostic criteria for Marfan syndrome. After exclusion of known loci for familial TAAD, a genome-wide scan was carried out to map the defective gene causing the disease in the family. A locus was mapped to a 25-cM region on 3p24 -25 with a maximum multipoint logarithm of the odds score of 4.28. Conclusions-A third locus for nonsyndromic TAAD was mapped to 3p24 -25 and termed the TAAD2 locus. This locus overlaps a previously mapped second locus for Marfan syndrome, termed the MFS2 locus. Future characterization of the TAAD2 gene will determine if TAAD2 is allelic to MFS2. In addition, identification of the TAAD2 gene will improve the presymptomatic diagnosis of individuals with this life-threatening genetic syndrome and provide information concerning the pathogenesis of the disease.

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Hypertension is a major risk factor for aortic root dilatation in women with Turner's syndrome

Cited by 155 publications

References 40 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

Epidemiological, endocrine and metabolic features in Turner syndrome

Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections ( TAAD2 ) to 3p24–25

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