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Loeys-Dietz syndrome

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https://www.readbyqxmd.com/read/29768367/the-phenotypic-heterogeneity-of-patients-with-marfan-related-disorders-and-their-variant-spectrums
#1
Go Hun Seo, Yoon-Myung Kim, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are the connective tissue disorders characterized by aortic root aneurysm and/or dissection and various additional features. We evaluated the correlation of these mutations with the phenotypes and determined the clinical applicability of the revised Ghent criteria.The mutation spectrum and phenotypic heterogeneities of the 83 and 5 Korean patients with suspected MFS and LDS were investigated as a retrospective manner. In patients with suspected MFS patients, genetic testing was conducted in half of 44 patients who met the revised Ghent criteria clinically and half of 39 patients who did not meet these criteria...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29760442/cross-ancestry-genome-wide-association-analysis-of-corneal-thickness-strengthens-link-between-complex-and-mendelian-eye-diseases
#2
Adriana I Iglesias, Aniket Mishra, Veronique Vitart, Yelena Bykhovskaya, René Höhn, Henriët Springelkamp, Gabriel Cuellar-Partida, Puya Gharahkhani, Jessica N Cooke Bailey, Colin E Willoughby, Xiaohui Li, Seyhan Yazar, Abhishek Nag, Anthony P Khawaja, Ozren Polašek, David Siscovick, Paul Mitchell, Yih Chung Tham, Jonathan L Haines, Lisa S Kearns, Caroline Hayward, Yuan Shi, Elisabeth M van Leeuwen, Kent D Taylor, Pieter Bonnemaijer, Jerome I Rotter, Nicholas G Martin, Tanja Zeller, Richard A Mills, Sandra E Staffieri, Jost B Jonas, Irene Schmidtmann, Thibaud Boutin, Jae H Kang, Sionne E M Lucas, Tien Yin Wong, Manfred E Beutel, James F Wilson, André G Uitterlinden, Eranga N Vithana, Paul J Foster, Pirro G Hysi, Alex W Hewitt, Chiea Chuen Khor, Louis R Pasquale, Grant W Montgomery, Caroline C W Klaver, Tin Aung, Norbert Pfeiffer, David A Mackey, Christopher J Hammond, Ching-Yu Cheng, Jamie E Craig, Yaron S Rabinowitz, Janey L Wiggs, Kathryn P Burdon, Cornelia M van Duijn, Stuart MacGregor
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana...
May 14, 2018: Nature Communications
https://www.readbyqxmd.com/read/29756196/endovascular-treatment-of-thoracoabdominal-aortic-aneurysm-in-loeys-dietz-syndrome
#3
Tomasz Jakimowicz, Michał Macech, Piotr Hammer, Tadeusz Grochowiecki, Sławomir Nazarewski
No abstract text is available yet for this article.
2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29742657/obstetric-management-of-loeys-dietz-syndrome
#4
Melissa L Russo, Neelima Sukhavasi, Veena Mathur, Shaine A Morris
BACKGROUND: Loeys-Dietz syndrome is associated with arterial tortuosity and aortic dissection. Pregnancy may be a period of increased risk for aortic dissection. CASE: A 16-year-old primigravid girl was referred to our center with a family history of aortic dissection. Loeys-Dietz syndrome was suspected, and genetic testing confirmed the TGFβ2 (c.988C>T) mutation. A cesarean delivery was performed at 36 weeks of gestation, with no cardiovascular complications...
May 7, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29726037/pseudoaneurysm-formation-after-valve-sparing-root-replacement-in-children-with-loeys-dietz-syndrome
#5
Rui H Liu, Charles D Fraser, Xun Zhou, Duke E Cameron, Luca A Vricella, Narutoshi Hibino
BACKGROUND: Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder predisposing patients to aneurysm formation and arterial dissection. Aortic root replacement is often performed prophylactically and valve-sparing root replacement (VSRR) has become the procedure of choice. However, in these patients with connective tissue disorders, postoperative pseudoaneurysms may develop. METHODS: All children with LDS undergoing VSRR at a single institution were retrospectively reviewed to identify patients who developed postoperative pseudoaneurysms...
May 3, 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29717556/heart-failure-and-sudden-cardiac-death-in-heritable-thoracic-aortic-disease-caused-by-pathogenic-variants-in-the-smad3-gene
#6
Julie De Backer, Alan C Braverman
BACKGROUND: Predominant cardiovascular manifestations in the spectrum of Heritable Thoracic Aortic Disease include by default aortic root aneurysms- and dissections, which may be associated with aortic valve disease. Mitral- and tricuspid valve prolapse are other commonly recognized features. Myocardial disease, characterized by heart failure and/or malignant arrhythmias has been reported in humans and in animal models harboring pathogenic variants in the Fibrillin1 gene. METHODS: Description of clinical history of three cases from one family in Ghent (Belgium) and one family in St...
May 1, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29706644/distinct-variants-affecting-differential-splicing-of-tgfbr1-exon-5-cause-either-loeys-dietz-syndrome-or-multiple-self-healing-squamous-epithelioma
#7
Takayuki Fujiwara, Norifumi Takeda, Hironori Hara, Hiroyuki Morita, Jun Kishihara, Ryo Inuzuka, Hiroki Yagi, Sonoko Maemura, Haruhiro Toko, Mutsuo Harada, Yuichi Ikeda, Hidetoshi Kumagai, Seitaro Nomura, Eiki Takimoto, Hiroshi Akazawa, Junya Ako, Issei Komuro
Variants in TGFBR1 have been reported to induce two completely distinct diseases, namely Loeys-Dietz syndrome (LDS) and multiple self-healing squamous epithelioma (MSSE). However, detailed mechanisms underlying this effect remain unknown. We report a Japanese familial case of LDS with a novel splice donor site variant in TGFBR1 gene (c.973 + 1 G > A; NG_007461.1). The intronic variant was predicted to mediate in-frame exon 5 skipping within the serine/threonine kinase (STK) domain, which may also be mediated by a similar TGFBR1 variant of a splice acceptor site in intron 4 (c...
April 30, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29687491/repair-of-an-aneurysm-of-the-ascending-aorta-and-arch-in-an-infant-with-loeys-dietz-syndrome
#8
Pratiksha Jaiswal, Varun Shetty, Ebrahim Patel, Deviprasad Shetty
Aortic aneurysms in childhood are rare disease entities and are usually seen in patients with genetic connective tissue disorders such as Marfans, Ehler-Danlos, and Loeys-Dietz syndrome (LDS). Patients affected with LDS present early in life and have a rapid disease progression. We report a case of repair of an ascending and aortic arch aneurysm in an infant with Loeys-Dietz syndrome.
May 2018: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/29682117/characterization-of-smad2-activation-in-human-thoracic-aortic-aneurysm
#9
Hayato Fukuda, Hiroki Aoki, Shohei Yoshida, Satoru Tobinaga, Hiroyuki Otsuka, Takahiro Shojima, Kazuyoshi Takagi, Yoshihiro Fukumoto, Hidetoshi Akashi, Seiya Kato, Hiroyuki Tanaka
Objective : Thoracic aortic aneurysm (TAA) reflects the local expansion of the thoracic aorta; the underlying causal molecular mechanism of TAA is not well understood. Recent studies have shown the importance of transforming growth factor beta (TGFβ) signaling in Marfan and Loeys-Dietz syndromes; however, its role in non-familial, non-syndromic TAA remains unclear. Materials and Methods : We performed histochemical and immunohistochemical analyses for activated (phosphorylated) SMAD2 (P-SMAD2) as an indicator of TGFβ signaling activities in the ascending TAA tissue as well as in the ascending aortic tissue with a normal diameter obtained from 7 patients without any clinical findings suggesting familial or syndromic TAA...
March 25, 2018: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/29650765/prospective-cardiovascular-genetics-evaluation-in-spontaneous-coronary-artery-dissection
#10
M Ihsan Kaadan, Carolyn MacDonald, Francesca Ponzini, Jessica Duran, Kelsey Newell, Linda Pitler, Angela Lin, Ido Weinberg, Malissa J Wood, Mark E Lindsay
BACKGROUND: Previous studies describing genetics evaluation in spontaneous coronary artery dissection (SCAD) have been retrospective in nature or presented as single case reports. As part of a dedicated clinical program, we evaluated patients in cardiovascular genetics clinic to determine the role of genetically triggered vascular disease and genetic testing in SCAD. METHODS AND RESULTS: Patient data were entered prospectively into the Massachusetts General Hospital SCAD registry database from July 2013 to September 2017...
April 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29611032/thoracoabdominal-aortic-replacement-in-patients-aged-50-and-younger
#11
REVIEW
Kenji Minatoya, Yosuke Inoue, Yoshimasa Seike, Atsushi Omura, Kyokun Uehara, Hiroaki Sasaki, Hitoshi Matsuda, Junjiro Kobayashi
OBJECTIVE: Open repair of a thoracoabdominal aortic aneurysm (TAAA) has been regarded as one of the most invasive procedures in cardiovascular surgery. Conversely, endovascular technology currently enables the repair of the thoracoabdominal aorta, and this approach is less invasive. However, the long-term durability of this method of endovascular repair remains unknown. This investigation retrospectively analyzed the long-term durability of thoracoabdominal aorta repair in patients aged 50 and younger...
April 2, 2018: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29510914/testing-patterns-for-genetically-triggered-aortic-and-arterial-aneurysms-and-dissections-at-an-academic-center
#12
Kelli L Hicks, Peter H Byers, Elina Quiroga, Melanie G Pepin, Sherene Shalhub
OBJECTIVE: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. METHODS: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015...
March 3, 2018: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/29487668/fetal-and-placental-anatomy-visualized-with-cinematic-rendering-from-volumetric-ct-data
#13
Steven P Rowe, Elliot K Fishman
Avoiding unnecessary radiation exposure in children, including fetuses or embryos, is of paramount importance. However, emergent clinical situations will arise that necessitate the use of ionizing radiation-based modalities, such as computed tomography (CT), in this patient population. In such circumstances, the use of advanced visualization methods may provide optimum diagnostic utility. We present the case of a pregnant patient with Loeys-Dietz syndrome who was evaluated with CT angiography to rule out an acute aortic syndrome...
February 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29483476/-valve-sparing-replacement-in-patients-with-aortic-root-dilatation
#14
Kazuhiro Yamazaki, Kenji Minatoya, Ryoma Ueda, Masato Takehara, Kazuhisa Sakamoto, Yujiro Ide, Hideo Kanemitsu, Koji Ueyama, Tadashi Ikeda
Valve-sparing root replacement is increasingly used to overcome drawbacks associated with valvular prostheses. In our institution, 7 patients underwent valve-sparing root replacement from August 2016 to July 2017. The mean age was 45 years (range, 14~69 years). Three patients had Marfan syndrome and 1 had Loeys-Dietz syndrome with acute aortic dissection. All patients underwent surgery with reimplantation technique using a Valsalva graft. Two patients required repair of aortic valve leaflet prolapse. All patients had an excellent clinical course, with mild or no aortic regurgitation and a decrease in end-diastolic volume on echocardiography...
January 2018: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/29392890/a-mutation-update-on-the-lds-associated-genes-tgfb2-3-and-smad2-3
#15
Dorien Schepers, Giada Tortora, Hiroko Morisaki, Gretchen MacCarrick, Mark Lindsay, David Liang, Sarju G Mehta, Jennifer Hague, Judith Verhagen, Ingrid van de Laar, Marja Wessels, Yvonne Detisch, Mieke van Haelst, Annette Baas, Klaske Lichtenbelt, Kees Braun, Denise van der Linde, Jolien Roos-Hesselink, George McGillivray, Josephina Meester, Isabelle Maystadt, Paul Coucke, Elie El-Khoury, Sandhya Parkash, Birgitte Diness, Lotte Risom, Ingrid Scurr, Yvonne Hilhorst-Hofstee, Takayuki Morisaki, Julie Richer, Julie Désir, Marlies Kempers, Andrea L Rideout, Gabrielle Horne, Chris Bennett, Elisa Rahikkala, Geert Vandeweyer, Maaike Alaerts, Aline Verstraeten, Hal Dietz, Lut Van Laer, Bart Loeys
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS...
May 2018: Human Mutation
https://www.readbyqxmd.com/read/29350591/clip-ligation-for-ruptured-intracranial-aneurysm-in-a-child-with-loeys-dietz-syndrome-case-report
#16
Steven B Carr, Greg Imbarrato, Robert E Breeze, C Corbett Wilkinson
The authors present the case of a pediatric patient with Loeys-Dietz syndrome (LDS) who underwent craniotomy for clip ligation of a ruptured intracranial aneurysm. To the authors' knowledge, this is the youngest reported patient with LDS who has been treated for a ruptured intracranial aneurysm. The patient presented with aneurysmal subarachnoid hemorrhage even though the results of surveillance screening were negative, and the aneurysm arose from the wall of the parent artery away from an arterial branch point...
April 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29350460/three-generation-family-with-novel-contiguous-gene-deletion-on-chromosome-2p22-associated-with-thoracic-aortic-aneurysm-syndrome
#17
Bianca Quiñones-Pérez, Grace E VanNoy, Meghan C Towne, Yiping Shen, Michael N Singh, Pankaj B Agrawal, Sharon E Smith
Latent transforming growth factor binding proteins (LTBP) are a family of extracellular matrix glycoproteins that play an important role in the regulation of transforming growth factor beta (TGF-ß) activation. Dysregulation of the TGF-ß pathway has been implicated in the pathogenesis of inherited disorders predisposing to thoracic aortic aneurysms syndromes (TAAS) including Marfan syndrome (MFS; FBN1) and Loeys-Dietz syndrome (LDS; TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3). While these syndromes have distinct clinical criteria, they share clinical features including aortic root dilation and musculoskeletal findings...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29339704/valve-sparing-aortic-root-replacement-in-loeys-dietz-syndrome-and-a-novel-mutation-in-tgfbr2
#18
Taner Kasar, Alper Gezdirici, Pelin Ayyıldız, Sertaç Haydin, Alper Güzeltaş
No abstract text is available yet for this article.
January 2018: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/29323665/arterial-tortuosity-syndrome-40-new-families-and-literature-review
#19
Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al-Essa, Waheed Al-Manea, Damien Bonnet, Ozlem Bostan, Odile Boute, Tiffany Busa, Nathalie Canham, Ergun Cil, Paul J Coucke, Margot A Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R Deyle, Harry Dietz, Sophie Dupuis-Girod, Eudice Fontenot, Björn Fischer-Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Diéz, Mohammed Z Haider, Joshua S Hardin, Xavier Jeunemaitre, Eric W Klee, Uwe Kornak, Manuel F Landecho, Anne Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño-Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, Maria Ramos-Arroyo, Massimiliano Rossi, Mustafa Salih, Mohammed Z Seidahmed, Elise Schaefer, Elisabeth Steichen-Gersdorf, Sehime Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R Collins, Andrea Taylor, Elaine C Davis, Yuri Zarate, Bert Callewaert
PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by mutations in SLC2A10.MethodsWe retrospectively characterized 40 novel ATS families (50 patients) and reviewed the 52 previously reported patients. We performed histology and electron microscopy (EM) on skin and vascular biopsies and evaluated TGF-β signaling with immunohistochemistry for pSMAD2 and CTGF...
January 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#20
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
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