Diagnosis and management issues in thoracic aortic aneurysm

Booher, Anna M.; Eagle, Kim A.

doi:10.1016/j.ahj.2011.04.010

Cited by 116 publications

(78 citation statements)

References 67 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]. These findings are associated with various connective tissue diseases such as Marfan or Turner syndromes, etc.…”

Section: Prace Poglądowementioning

confidence: 95%

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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: 95%

“…There are two major types of thoracic aortic aneurysms (TAA) -degenerative/atherosclerotic and genetically triggered [22,24,27]. The most dangerous thoracic aortic aneurysms that lead to dissection of ascending aorta are usually associated with genetic mutations [26,30].…”

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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“…4 Various etiologies can cause a TAA, including degeneration associated with increased age, atherosclerosis, genetically triggered syndromes (like bicuspid aortic valve, Marfan, LoeysDietz, Ehlers-Danlos, and Turner syndromes), aortitis, trauma, and chronic aortic dissection. 5 The most dangerous complications are aortic rupture and aortic dissection, which become higher risk entities when the diameter of the ascending aorta increases above 50-60 mm. 6 A contained rupture of an ascending TAA is a very rare occurrence.…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of a pericardial effusion with a thoracic aortic aneurysm by point-of-care ultrasound

Francispragasam

Yoo

Lam

et al. 2016

CJEM

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We present a rare case of a young patient with chest pain whose ascending thoracic aortic aneurysm (TAA) was detected by point-of-care ultrasound (POCUS) leading to a successful surgical repair. POCUS identified a moderate pericardial effusion and an associated severely dilated ascending aorta. In this context, it is important to rule out aortic rupture and aortic dissection. We also discuss the epidemiology, complications, and management of TAAs as well as the role of cardiac POCUS in the diagnosis of thoracic aneurysmal disease. RÉSUMÉ

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“…Therefore, cross-sectional imaging plays a key role in the diagnosis of aortic dissection, which is essential for prompt and appropriate treatment (36).…”

Section: Vessels Thoracic Aortic Aneurysmmentioning

confidence: 99%