Prenatal Detection of TGFBR1 Variant Associated With Severe Ventriculomegaly and Loeys–Dietz Syndrome
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DOI: 10.1002/pd.6811
Abstract: To report a novel prenatal presentation of Loeys‐Dietz Syndrome type 1 (LDS1), characterized by severe ventriculomegaly and macrocephaly, associated with a likely pathogenic variant in the TGFBR1 gene. read more here.
Keywords: variant; dietz syndrome; loeys dietz; tgfbr1 ... See more keywords
Management of a DAVF in a Patient with Loeys-Dietz Syndrome Type II
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Neuroradiology"
DOI: 10.1007/s00062-021-01007-3
Abstract: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disease characterized by generalized arterial tortuosity with aneurysms and dissections in association with craniofacial and skeletal manifestations [1, 2]. Typical LDS patients have hypertelorism, bifid… read more here.
Keywords: patient loeys; management davf; davf patient; syndrome type ... See more keywords
Endovascular repair of tortuous recurrent femoral-popliteal aneurysm in a patient with Loeys-Dietz syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Vascular Surgery Cases and Innovative Techniques"
DOI: 10.1016/j.jvscit.2018.03.001
Abstract: Loeys-Dietz syndrome is a rare connective tissue disorder with widespread arterial tortuosity and aneurysms. This syndrome is most notable for its aortic disease, including aortic root dilation and aortic dissection or rupture. Although not as… read more here.
Keywords: endovascular repair; tortuous recurrent; loeys dietz; femoral popliteal ... See more keywords
Parental-reported neurodevelopmental issues in Loeys-Dietz syndrome.
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DOI: 10.1016/j.ridd.2018.08.003
Abstract: BACKGROUND Loeys-Dietz syndrome (LDS) is a congenital multisystem disorder affecting the cardiovascular and musculoskeletal system. Limited data have reported neurodevelopmental (ND) issues in LDS. AIMS To determine the extent of ND issues in patients with… read more here.
Keywords: neurodevelopmental issues; loeys dietz; parental reported; reported neurodevelopmental ... See more keywords
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0038-x
Abstract: Loeys–Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-related genes and is characterized by aortic aneurysm and dissection. We report an LDS patient with a de novo missense variant of TGFBR1 [c.1126A>G,… read more here.
Keywords: aortic aneurysm; loeys dietz; loss function; variant tgfbr1 ... See more keywords
A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys–Dietz syndrome due to a pathogenic variant in TGFBR2
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DOI: 10.1080/13816810.2025.2565633
Abstract: ABSTRACT Introduction Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder most commonly due to pathogenic variants in the transforming growth factor beta receptor genes TGFBR1 and TGFBR2. There have been reports of… read more here.
Keywords: variant; tgfbr2; dietz syndrome; loeys dietz ... See more keywords
Dilated cardiomyopathy associated with elephant trunk in Loeys–Dietz syndrome
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DOI: 10.1093/ejcts/ezw376
Abstract: A 14-year-old boy presented to our institution with a diagnosis of acute type A dissection. He was diagnosed with Loeys-Dietz syndrome and underwent aortic valve sparing repair at the age of 9 years. Emergency total… read more here.
Keywords: ventricular function; elephant trunk; left ventricular; loeys dietz ... See more keywords
Different ascending aortic phenotypes with similar mutations in 2 patients with Loeys-Dietz syndrome type 2
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DOI: 10.1093/icvts/ivac159
Abstract: Abstract Our goal was to present 2 infants with confirmed Loeys-Dietz syndrome. The missense mutations in exon 7 of the TGFBR2 gene are only 5 codons apart (c.1597T>C and c.1582C>G). Phenotypically, the aneurysms of the… read more here.
Keywords: aortic phenotypes; phenotypes similar; different ascending; ascending aortic ... See more keywords
Cardiovascular Risks in Patients with Loeys-Dietz Syndrome.
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DOI: 10.1097/aln.0000000000003190
Abstract: Supplemental Digital Content is available in the text. read more here.
Keywords: cardiovascular risks; dietz syndrome; patients loeys; loeys dietz ... See more keywords
Extreme phenotypes of Loeys Dietz syndrome.
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DOI: 10.1097/mcd.0000000000000173
Abstract: Clinical report A 48-year-old man (see family pedigree, Fig. 1) was referred for genetic testing because of a family history of Loeys Dietz syndrome. His maternal cousin had previously required surgery for dilated aortic root… read more here.
Keywords: loeys dietz; extreme phenotypes; year old; phenotypes loeys ... See more keywords
Is prophylactic aortic arch replacement justified in patients with Loeys‐Dietz Syndrome who present for ascending repair?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cardiac Surgery"
DOI: 10.1111/jocs.16848
Abstract: Patients with Loeys‐Dietz Syndrome (LDS) are predisposed for pathologies of the cardiovascular system, in particular aortic aneurysm and aortic dissection. These patients require extremely careful management, and an attentive medical and surgical team. One often… read more here.
Keywords: patients loeys; arch; dietz syndrome; aortic arch ... See more keywords