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L’existence de kystes rénaux simples a été associée à une augmentation du risque d’anévrysme de l’aorte. Il existe une augmentation de la prévalence des anévrysmes intracrâniens au cours de la polykystose rénale autosomique dominante (PKRAD), mais il n’y a pas d’information concernant une dilatation de la racine de l’aorte. Le but de l’étude a été de comparer le diamètre du sinus de Valsalva (SoV)...
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers–Danlos or Loeys–Dietz (LDS) syndromes. Several of the TGFβ‐pathway‐related genes predispose to different types of LDS. Heterozygous loss‐of‐function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular...
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