Matches in SemOpenAlex for { <https://semopenalex.org/work/W4384524980> ?p ?o ?g. }
Showing items 1 to 61 of
61
with 100 items per page.
- W4384524980 endingPage "41" @default.
- W4384524980 startingPage "37" @default.
- W4384524980 abstract "Loeys- Dietz Syndrome (LDS, pronounced LOH-eez-DEETS) is a connective tissue disorder that was first described in 2005. In the past, many patients were misdiagnosed clinically as Marfan Syndrome (MFS) due to their overlapping phenotype. Distinguishing craniofacial features of LDS include hypertelorism, bifid uvula, cleft palate and absence of lens dislocation. Unlike MFS, aortic root dilatation with or without arterial tortuosity elsewhere are almost always present. Patient 1 was a 7-year- old boy, diagnosed with MFS at 4 years of age. Echocardiogram showed aortic root dilatation with no lens dislocation on eye assessment. He was initially started on β-blocker by the cardiologist, losartan was added on subsequently due to the increasing size of his aortic root diameter. Patient 2 was a 14-year-old boy, followed up for severe aortic root dilatation. He had a stormy neonatal period; diagnosed with tracheobronchomalacia, multiple joint dislocation, feeding intolerance, scoliosis and squint. He was followed up for many years as possible MFS. Genetic testing performed showed mutation at TGFBR2 gene, confirming a diagnosis of LDS in both patients. In addition to these families, another 6 families under our aortopathy clinic follow up have had their diagnosis of LDS confirmed molecularly. LDS is increasingly being described in patients with a more severe aortic disease and Marfan-like phenotype. The difference in disease severity highlights the importance of genetic testing in patients with suspected aortopathy, enabling timely implementation of therapeutic strategies." @default.
- W4384524980 created "2023-07-18" @default.
- W4384524980 creator A5031493618 @default.
- W4384524980 creator A5062551355 @default.
- W4384524980 creator A5090758229 @default.
- W4384524980 date "2023-07-17" @default.
- W4384524980 modified "2023-10-16" @default.
- W4384524980 title "Aggressive Aortic Disease with Marfan-like Phenotype in Malaysian Patients with Loeys-Dietz Syndrome" @default.
- W4384524980 doi "https://doi.org/10.51407/mjpch.v29i2.242" @default.
- W4384524980 hasPublicationYear "2023" @default.
- W4384524980 type Work @default.
- W4384524980 citedByCount "0" @default.
- W4384524980 crossrefType "journal-article" @default.
- W4384524980 hasAuthorship W4384524980A5031493618 @default.
- W4384524980 hasAuthorship W4384524980A5062551355 @default.
- W4384524980 hasAuthorship W4384524980A5090758229 @default.
- W4384524980 hasBestOaLocation W43845249801 @default.
- W4384524980 hasConcept C105702510 @default.
- W4384524980 hasConcept C126322002 @default.
- W4384524980 hasConcept C126838900 @default.
- W4384524980 hasConcept C164705383 @default.
- W4384524980 hasConcept C187212893 @default.
- W4384524980 hasConcept C2777543888 @default.
- W4384524980 hasConcept C2779286207 @default.
- W4384524980 hasConcept C2780561598 @default.
- W4384524980 hasConcept C2780714102 @default.
- W4384524980 hasConcept C2781030672 @default.
- W4384524980 hasConcept C2781355080 @default.
- W4384524980 hasConcept C71924100 @default.
- W4384524980 hasConceptScore W4384524980C105702510 @default.
- W4384524980 hasConceptScore W4384524980C126322002 @default.
- W4384524980 hasConceptScore W4384524980C126838900 @default.
- W4384524980 hasConceptScore W4384524980C164705383 @default.
- W4384524980 hasConceptScore W4384524980C187212893 @default.
- W4384524980 hasConceptScore W4384524980C2777543888 @default.
- W4384524980 hasConceptScore W4384524980C2779286207 @default.
- W4384524980 hasConceptScore W4384524980C2780561598 @default.
- W4384524980 hasConceptScore W4384524980C2780714102 @default.
- W4384524980 hasConceptScore W4384524980C2781030672 @default.
- W4384524980 hasConceptScore W4384524980C2781355080 @default.
- W4384524980 hasConceptScore W4384524980C71924100 @default.
- W4384524980 hasIssue "2" @default.
- W4384524980 hasLocation W43845249801 @default.
- W4384524980 hasOpenAccess W4384524980 @default.
- W4384524980 hasPrimaryLocation W43845249801 @default.
- W4384524980 hasRelatedWork W1598839059 @default.
- W4384524980 hasRelatedWork W2003994922 @default.
- W4384524980 hasRelatedWork W2010636288 @default.
- W4384524980 hasRelatedWork W2101396046 @default.
- W4384524980 hasRelatedWork W2417650227 @default.
- W4384524980 hasRelatedWork W2470840512 @default.
- W4384524980 hasRelatedWork W2607889684 @default.
- W4384524980 hasRelatedWork W2776361441 @default.
- W4384524980 hasRelatedWork W3080989 @default.
- W4384524980 hasRelatedWork W4315782287 @default.
- W4384524980 hasVolume "29" @default.
- W4384524980 isParatext "false" @default.
- W4384524980 isRetracted "false" @default.
- W4384524980 workType "article" @default.