Loeys-Dietz syndrome by Bogumiła Wójcik-Niklewska, Erita Filipek

Subjects: “…loeys-dietz syndrome…”
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The recognition of Loeys–Dietz syndrome as a differential diagnosis by Yuka Nakayama, Hanako Koguchi-Yoshioka, Tomomi Yamaguchi, Tomoki Kosho, Manabu Fujimoto, Mari Wataya-Kaneda

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Loeys-Dietz Syndrome Complicated by Right Coronary Artery Pseudoaneurysm by Yasir Jawaid, Obadah Aqtash, Kanaan Mansoor, Aman N. Ajmeri, Frank Fofie, Ahmed Amro, Larry Dial

“…Loeys-Dietz syndrome is a rare autosomal dominant connective tissue disorder notable for rapidly progressive vascular aneurysmal disease and craniofacial defects. …”
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P169: Loeys-Dietz syndrome: Phenotyping by two genotype-first methods* by Caralynn Wilczewski, Katharine Chaillet, Alexander Katz, Nicholas Singh-Miller, Tam Tran, Gretchen MacCarrick, Anirudh Kesanapally, Pamela Frischmeyer-Guerrerio, Anthony Guerrerio, Harry Dietz, Oleg Shchelochkov, Leslie Biesecker, Huan Mo, Clesson Turner

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Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome by Emily R. Gordon, Stephanie A. Felker, Stephanie A. Felker, Tanner F. Coleman, Tanner F. Coleman, Nadiya Sosonkina, Jada Pugh, Jada Pugh, Meagan E. Cochran, Meagan E. Cochran, Anna C. E. Hurst, Sara J. Cooper

“…Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic involvement. …”
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Diagnosis of skeletal fragility due to Loeys-Dietz syndrome and treatment with romosozumab followed by denosumab by Yasutaka Tsujimoto, Naoki Yamamoto, Hayato Fukumitsu, Hironori Bando, Masaaki Yamamoto, Keiko Tanaka, Naoya Morisada, Miwako Nagasaka, Keisuke Oe, Takahiro Niikura, Mika Yamauchi, Wataru Ogawa, Hidenori Fukuoka

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Frozen elephant trunk aortic reconstruction in a patient with Loeys-Dietz syndromeCentral Message by Mohamed Eldeiry, MD, Shelley Miyamoto, MD, Kathryn Chatfield, MD, T. Brett Reece, MD, Max B. Mitchell, MD

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Epilepsy in Loeys-Dietz Syndrome: The Rare Concurrence of a Connective Tissue and Neuronal Migration Disorder by Fatima Farid Mir, Mohammad Ashraf

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Case Report: Efficacy and safety of recombinant growth hormone therapy in a girl with Loeys–Dietz syndrome by Kamil Dyrka, Aleksander Jamsheer, Michal Bartecki, Waldemar Bobkowski, Malgorzata Pawelec-Wojtalik, Justyna Rajewska-Tabor, Andzelika Tomaszewska, Justyna Balcerzak, Zuzanna Aniol, Marek Niedziela, Monika Obara-Moszynska

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A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report by Tarika D. Patel, Meagan N. McNicholas, Christina M. Laukaitis

“…Loeys–Dietz syndrome (LDS) 5 is characterized by aortic aneurysms, hypertelorism, and cleft palate/bifid uvula. …”
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A case of multiple genomic anomalies (the combination of Ehlers — Danlos syndrome vascular type and Loeys — Dietz syndrome type 2) in a child by A. E. Sipyagina, L. S. Baleva, E. N. Yakusheva, A. N. Semyachkina, E. A. Potrokhova

“…The report presents a clinical case of a patient with polygenic connective tissue disorder: a combination of autosomal dominant Ehlers – Danlos and Loeys – Dietz syndromes. In the modern literature, we have not found a description of the combination of these two syndromes in one individual. …”
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The natural history of protrusio acetabuli in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up CT study by Tordis Böker, Eva Kirkhus, Are Hugo Pripp, Svend Rand-Hendriksen, Benedicte Paus, Hans-Jørgen Smith, Rigmor Lundby

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Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms by Daniel Marcos-Ríos, Antonio Rochano-Ortiz, Nerea Méndez-Barbero, Jorge Oller

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Thoracic Aortic Aneurysm Growth Rates and Predicting Factors: A Systematic Review and Meta‐Analysis by Matthew Henry, Carlos A. Campello Jorge, Pieter A.J. van Bakel, Heather A. Knauer, Mark MacEachern, Joost A. van Herwaarden, Gisela Teixidó‐Tura, Arturo Evangelista, Richmond W. Jeremy, C. A. Figueroa, Himanshu J. Patel, Marion Hofmann Bowman, Kim Eagle, Nicholas S. Burris

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Mitral Annular Disjunction in Heritable Thoracic Aortic Disease: Insights From the Montalcino Aortic Consortium by Kishan L. Asokan, Jennifer R. Landes, Wannes Renders, Laura Muiño Mosquera, Julie De Backer, David W. Jantzen, Anji T. Yetman, Gisela Teixido‐Tura, Arturo Evangelista, Richmond Jeremy, Edward G. Jones, Shaine Morris, Tam Doan, Maral Ouzonian, Alan Braverman, Guillaume Jondeau, Olivier Milleron, Dianna M. Milewicz, Siddharth K. Prakash

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Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study by Gry Velvin, Heidi Johansen, Gunnbjørg Aune, Kerstin Fugl-Meyer, Amy Østertun Geirdal

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CO26 | Relationship between SMAD3 variants and non-aortic cardiovascular features

“… Background and Aims: SMAD3 gene encodes a component of the TGFβ-signaling system and is associated with Loeys-Dietz syndrome (LDS) and natural history for aortic dissection at smaller aortic diameter and arterial aneurysms. …”
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Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis by Jonas Gustafson, Maria Bjork, Conny M. A. van Ravenswaaij-Arts, Michael L. Cunningham

“…These TGFb pathway-associated craniosynostosis syndromes include Loeys–Dietz syndrome (LDS) and Shprintzen–Goldberg syndrome (SGS). …”
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The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations by Valeria E. Duarte, Jessica N. Richardson, Michael N. Singh

“…Thoracic aortic disease (TAD) poses substantial risks during pregnancy, particularly for women with genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, and vascular Ehlers-Danlos syndrome. …”
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Aortopathy – A surgical pathology experience by Pradeep Vaideeswar, Sujit Udayaravi

“…There was one case each of Loeys-Dietz syndrome, and aortopathy possibly related to blunt chest trauma. …”
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