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Quoted phrase not found in phrase index: "Loeys-Dietz syndrome 6"
Page 1
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
BACKGROUND: The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. ...RESULTS: We found a mutation in TGFBR1 or TGFBR2 in all probands with typical Loeys-Dietz …
BACKGROUND: The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with wi …
Arterial tortuosity in genetic arteriopathies.
Morris SA. Morris SA. Curr Opin Cardiol. 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218. Curr Opin Cardiol. 2015. PMID: 26398550 Free PMC article. Review.
RECENT FINDINGS: Although arterial tortuosity has been primarily described in Loeys-Dietz syndrome due to TGFBR1 and TGFBR2 mutations and in arterial tortuosity syndrome due to SLC210A mutations, recent studies that use quantitative measures of tortuos …
RECENT FINDINGS: Although arterial tortuosity has been primarily described in Loeys-Dietz syndrome due to TGFBR1 and TG …
Neurovascular manifestations of connective-tissue diseases: A review.
Kim ST, Brinjikji W, Lanzino G, Kallmes DF. Kim ST, et al. Interv Neuroradiol. 2016 Dec;22(6):624-637. doi: 10.1177/1591019916659262. Epub 2016 Aug 10. Interv Neuroradiol. 2016. PMID: 27511817 Free PMC article. Review.
In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. …
In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue …
Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features.
Wang Y, Starovoytov A, Murad AM, Hunker KL, Brunham LR, Li JZ, Saw J, Ganesh SK. Wang Y, et al. JAMA Cardiol. 2022 Oct 1;7(10):1045-1055. doi: 10.1001/jamacardio.2022.2970. JAMA Cardiol. 2022. PMID: 36103205 Free PMC article.
Variants in vascular CTD genes were identified in 17.0% of individuals (16 of 94) with high-risk SCAD and were enriched (OR, 2.6; 95% CI, 1.6-4.2; P = 7.8 10-4) as compared with gnomAD, with leading significant signals in COL3A1 (OR, 13.4; 95% CI, 4.9-36.2; P = 2.8 …
Variants in vascular CTD genes were identified in 17.0% of individuals (16 of 94) with high-risk SCAD and were enriched (OR, 2.6; 95% …
Arterial tortuosity in pediatric Loeys-Dietz syndrome patients.
Brunet-Garcia L, Prabaharan P, Bruyndonckx L, Field E, D'Arco F, Capelli C, Cervi E. Brunet-Garcia L, et al. Am J Med Genet A. 2024 Mar;194(3):e63465. doi: 10.1002/ajmg.a.63465. Epub 2023 Nov 2. Am J Med Genet A. 2024. PMID: 37916856
Loeys-Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvula, aortic aneurysms, and arterial tortuosity. ...Patients with TGFBR2 variants had greater values of TI compared to patients with TGFB2 var …
Loeys-Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvu …
Reexamining remodelling in children.
Matsushima S, Heß A, Lämmerzahl JR, Karliova I, Giebels C, Schäfers HJ. Matsushima S, et al. Eur J Cardiothorac Surg. 2020 Jun 1;57(6):1091-1097. doi: 10.1093/ejcts/ezz380. Eur J Cardiothorac Surg. 2020. PMID: 31972004
Aortic valve morphology was tricuspid in 10 patients, bicuspid in 5 patients, unicuspid in 1 patient and a pulmonary autograft in 1 patient. Marfan syndrome, Loeys-Dietz syndrome and other connective tissue diseases were present in 11, 1 and 2 patients …
Aortic valve morphology was tricuspid in 10 patients, bicuspid in 5 patients, unicuspid in 1 patient and a pulmonary autograft in 1 patient. …
Aortic dissection during pregnancy and puerperium: A Japanese nationwide survey.
Tanaka H, Kamiya CA, Horiuchi C, Morisaki H, Tanaka K, Katsuragi S, Hayata E, Hasegawa J, Nakata M, Sekizawa A, Ishiwata I, Ikeda T. Tanaka H, et al. J Obstet Gynaecol Res. 2021 Apr;47(4):1265-1271. doi: 10.1111/jog.14657. Epub 2021 Jan 21. J Obstet Gynaecol Res. 2021. PMID: 33480070
Seventeen cases of pregnancy-related aortic dissection were identified. RESULTS: Maternal death due to aortic dissection was observed in nine patients (56.2%) while seven survived (43.8%). Dissection occurred during the postpartum period in 10 cases (62.5%), the third trim …
Seventeen cases of pregnancy-related aortic dissection were identified. RESULTS: Maternal death due to aortic dissection was observed …
Surgical Management of Peripheral Vascular Manifestations of Loeys-Dietz Syndrome.
Beaulieu RJ, Lue J, Ehlert BA, Grimm JC, Hicks CW, Black JH 3rd. Beaulieu RJ, et al. Ann Vasc Surg. 2017 Jan;38:10-16. doi: 10.1016/j.avsg.2016.06.007. Epub 2016 Aug 10. Ann Vasc Surg. 2017. PMID: 27521820
BACKGROUND: Loeys-Dietz syndrome (LDS) is characterized by a triad of aortic aneurysm, vessel tortuosity, and hypertelorism. ...Fourteen (77.8%) patients had peripheral aneurysms, occurring most frequently in the carotid (35.7%), subclavian (35.7%), and visce …
BACKGROUND: Loeys-Dietz syndrome (LDS) is characterized by a triad of aortic aneurysm, vessel tortuosity, and hypertelo …
Mitral annular disjunction on cardiac MRI: Prevalence and association with disease severity in Loeys-Dietz syndrome.
Sanchez Tijmes F, Chan VSH, Murphy J, Hashem DAL, Hanneman K, Wald RM, Thavendiranathan P, Ouzounian M, Oechslin E, Karur GR. Sanchez Tijmes F, et al. Int J Cardiol. 2023 Dec 1;392:131276. doi: 10.1016/j.ijcard.2023.131276. Epub 2023 Aug 19. Int J Cardiol. 2023. PMID: 37598908
BACKGROUND: The purpose of this study was to evaluate mitral annular disjunction (MAD) on cardiac magnetic resonance imaging (MRI) in Loeys-Dietz Syndrome (LDS) and to explore its association with adverse outcomes. ...Two patients in the MAD group developed s …
BACKGROUND: The purpose of this study was to evaluate mitral annular disjunction (MAD) on cardiac magnetic resonance imaging (MRI) in Loe …
Aortic valve reimplantation in patients with connective tissue syndromes: A 15-year follow-up.
Forteza Gil A, Martinez-Lopez D, Centeno J, Rivas Oyarzabal J, García Suarez J, de Villarreal Soto JE, Rosado ECR, Vera Puente B, Villar García S, Ospina Mosquera VM, Mingo S, Moñivas V, Serrano-Fiz S, Martínez López D. Forteza Gil A, et al. Eur J Cardiothorac Surg. 2022 Aug 3;62(3):ezac149. doi: 10.1093/ejcts/ezac149. Eur J Cardiothorac Surg. 2022. PMID: 35388902
RESULTS: A total of 157 patients with aortic root aneurysm with the diagnosis of heritable thoracic aortic disease received the David procedure. Marfan syndrome was found in 143 (91.1%) patients, Loeys-Dietz in 13 and Ehler-Danlos in 1 patient. ...Freedom fro …
RESULTS: A total of 157 patients with aortic root aneurysm with the diagnosis of heritable thoracic aortic disease received the David proced …
55 results