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
Dilated cardiomyopathy associated with elephant trunk in Loeys–Dietz syndrome
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Cardio-Thoracic Surgery"
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
Sign Up to like & getrecommendations! Published in 2022 at "Interactive Cardiovascular and Thoracic Surgery"
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.
Sign Up to like & getrecommendations! Published in 2020 at "Anesthesiology"
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.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical dysmorphology"
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
Long‐term risk of arch complications in Loeys Dietz syndrome patients undergoing proximal ascending aortic replacement
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cardiac Surgery"
DOI: 10.1111/jocs.16855
Abstract: Loeys‐Dietz syndrome (LDS) is a rare connective tissue disorder. In LDS patients with normal arch morphology, whether the arch should be prophylactically replaced at the time of proximal aortic replacement remains unknown. We evaluated the… read more here.
Keywords: long term; aortic replacement; replacement; dietz syndrome ... See more keywords
Infant with Loeys-Dietz syndrome treated for febrile status epilepticus with COVID-19 infection: first reported case of febrile status epilepticus and focal seizures in a patient with Loeys-Dietz syndrome and review of literature
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-250587
Abstract: Loeys-Dietz syndrome (LDS) is a rare, autosomal dominant multisystem disorder that is caused by mutations of transforming growth factor-β receptors. Mutations in SMAD3 and TGFB3 have been recently reported. LDS is characterised by the triad… read more here.
Keywords: status epilepticus; febrile status; dietz syndrome; status ... See more keywords