Matches in SemOpenAlex for { <https://semopenalex.org/work/W2947951957> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2947951957 endingPage "1119" @default.
- W2947951957 startingPage "1117" @default.
- W2947951957 abstract "In 2003, a 16-year-old girl underwent a Bentall procedure after development of progressive dyspnea caused by an aneurysm of the ascending aorta and severe aortic regurgitation. Despite aortic aneurysm and retrognathia, no clinical findings of Marfan syndrome or Ehlers-Danlos syndrome were present. After the Bentall procedure, annual follow-up visits, including annual magnetic resonance angiography of the aorta, were performed, revealing, in 2007, an asymptomatic aneurysm of the superior mesenteric artery measuring 14 mm, with a progression to 20 mm in 2016. In addition, ectasias of the aortic arch (39 mm), abdominal aorta (30 mm), both carotid bulbs (13 mm), and both common femoral arteries (14 mm) could be detected in 2016 (Figure 1). Genetic testing was negative for Marfan syndrome and Ehlers-Danlos syndrome but revealed a TGFBR1 mutation leading to the diagnosis of Loeys-Dietz syndrome in that patient. Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder caused by mutations in genes encoding in the transforming growth factor beta- signaling pathway, like TGFBR1, TGFBR2, or SMAD3, and typically presenting with hypertelorism, skeletal malformations, bifid uvula, and arterial aneurysms, especially affecting the aorta. Over the whole follow-up period, the patient was asymptomatic, while a progression of the ectasias toward aneurysm formations of the aortic arch and abdominal aorta—as well as newly developed ectasias of the brachiocephalic artery, right subclavian artery, left renal artery and common and proper hepatic artery—were observed in 2018 (Figure 2). In our patient, early diagnosis was challenging, as Loeys-Dietz syndrome was unknown at patient's initial presentation in 2003 and because of an oligosymptomatic manifestation with retrognathia and arterial aneurysms." @default.
- W2947951957 created "2019-06-07" @default.
- W2947951957 creator A5011360271 @default.
- W2947951957 creator A5048677404 @default.
- W2947951957 date "2019-06-01" @default.
- W2947951957 modified "2023-09-26" @default.
- W2947951957 title "Vascular Involvement in Loeys-Dietz Syndrome" @default.
- W2947951957 doi "https://doi.org/10.1016/j.mayocp.2018.12.030" @default.
- W2947951957 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31171121" @default.
- W2947951957 hasPublicationYear "2019" @default.
- W2947951957 type Work @default.
- W2947951957 sameAs 2947951957 @default.
- W2947951957 citedByCount "0" @default.
- W2947951957 crossrefType "journal-article" @default.
- W2947951957 hasAuthorship W2947951957A5011360271 @default.
- W2947951957 hasAuthorship W2947951957A5048677404 @default.
- W2947951957 hasBestOaLocation W29479519571 @default.
- W2947951957 hasConcept C126322002 @default.
- W2947951957 hasConcept C126838900 @default.
- W2947951957 hasConcept C141071460 @default.
- W2947951957 hasConcept C143409427 @default.
- W2947951957 hasConcept C164705383 @default.
- W2947951957 hasConcept C2776098176 @default.
- W2947951957 hasConcept C2777323849 @default.
- W2947951957 hasConcept C2777910003 @default.
- W2947951957 hasConcept C2778212899 @default.
- W2947951957 hasConcept C2778249958 @default.
- W2947951957 hasConcept C2779980429 @default.
- W2947951957 hasConcept C2780561598 @default.
- W2947951957 hasConcept C2781285907 @default.
- W2947951957 hasConcept C2781355080 @default.
- W2947951957 hasConcept C71924100 @default.
- W2947951957 hasConcept C7843141 @default.
- W2947951957 hasConceptScore W2947951957C126322002 @default.
- W2947951957 hasConceptScore W2947951957C126838900 @default.
- W2947951957 hasConceptScore W2947951957C141071460 @default.
- W2947951957 hasConceptScore W2947951957C143409427 @default.
- W2947951957 hasConceptScore W2947951957C164705383 @default.
- W2947951957 hasConceptScore W2947951957C2776098176 @default.
- W2947951957 hasConceptScore W2947951957C2777323849 @default.
- W2947951957 hasConceptScore W2947951957C2777910003 @default.
- W2947951957 hasConceptScore W2947951957C2778212899 @default.
- W2947951957 hasConceptScore W2947951957C2778249958 @default.
- W2947951957 hasConceptScore W2947951957C2779980429 @default.
- W2947951957 hasConceptScore W2947951957C2780561598 @default.
- W2947951957 hasConceptScore W2947951957C2781285907 @default.
- W2947951957 hasConceptScore W2947951957C2781355080 @default.
- W2947951957 hasConceptScore W2947951957C71924100 @default.
- W2947951957 hasConceptScore W2947951957C7843141 @default.
- W2947951957 hasIssue "6" @default.
- W2947951957 hasLocation W29479519571 @default.
- W2947951957 hasLocation W29479519572 @default.
- W2947951957 hasOpenAccess W2947951957 @default.
- W2947951957 hasPrimaryLocation W29479519571 @default.
- W2947951957 hasRelatedWork W1981958423 @default.
- W2947951957 hasRelatedWork W1998783394 @default.
- W2947951957 hasRelatedWork W2000742911 @default.
- W2947951957 hasRelatedWork W2119022275 @default.
- W2947951957 hasRelatedWork W2122048065 @default.
- W2947951957 hasRelatedWork W2137652411 @default.
- W2947951957 hasRelatedWork W2163327186 @default.
- W2947951957 hasRelatedWork W2790896609 @default.
- W2947951957 hasRelatedWork W3200710579 @default.
- W2947951957 hasRelatedWork W129560399 @default.
- W2947951957 hasVolume "94" @default.
- W2947951957 isParatext "false" @default.
- W2947951957 isRetracted "false" @default.
- W2947951957 magId "2947951957" @default.
- W2947951957 workType "article" @default.