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Loeys-Dietz

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https://www.readbyqxmd.com/read/29350591/clip-ligation-for-ruptured-intracranial-aneurysm-in-a-child-with-loeys-dietz-syndrome-case-report
#1
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...
January 19, 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
#2
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...
January 19, 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
#3
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/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#4
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
https://www.readbyqxmd.com/read/29146755/ocular-findings-in-loeys-dietz-syndrome
#5
Catharina Busch, Robert Voitl, Barbara Goergen, Tomasz Zemojtel, Petra Gehle, Daniel J Salchow
BACKGROUND: Loeys-Dietz syndrome (LDS), an autosomal-dominant connective tissue disorder, is characterised by systemic manifestations including arterial aneurysm and craniofacial dysmorphologies. Although ocular involvement in LDS has been reported, detailed information on those manifestations is lacking. METHODS: Retrospective chart review of patients with diagnosed LDS and comparison with age-matched control patients. RESULTS: Mean age was 37...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29049702/aortic-root-and-hemiarch-replacement-in-a-patient-with-loeys-dietz-and-hypoplastic-left-heart-syndromes
#6
Eltayeb Mohamed Ahmed, Alexandru Ciprian Visan, Graham Stuart, Serban Stoica
A 15-year-old patient with hypoplastic left heart syndrome underwent 3-stage palliation by the age of 3 years. He was later diagnosed with Loeys-Dietz syndrome. On follow-up imaging, the neoaorta was dilated at 50 mm in diameter. He underwent aortic root replacement with a composite valve conduit and hemiarch replacement, using a boat-shaped Dacron graft. The uncertainty of how univentricular circulation would tolerate long bypass time steered us away from a total arch replacement. His postoperative recovery was uneventful...
October 11, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29022822/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#7
A Harky, M Garner, N Roberts
Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative...
February 13, 2017: Annals of the Royal College of Surgeons of England
https://www.readbyqxmd.com/read/28972113/teaching-neuroimages-rare-cause-of-horner-syndrome-in-loeys-dietz-syndrome
#8
Sung-Min Cho, Rodica Di Lorenzo, Jason Mathew, Andrew B Buletko
No abstract text is available yet for this article.
October 3, 2017: Neurology
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#9
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28871571/acute-aortic-dissection-pathogenesis-risk-factors-and-diagnosis
#10
Joanna Gawinecka, Felix Schönrath, Arnold von Eckardstein
Acute aortic dissection is a rare but life-threatening condition with a lethality rate of 1 to 2% per hour after onset of symptoms in untreated patients. Therefore, its prompt and proper diagnosis is vital to increase a patient's chance of survival and to prevent grievous complications. Typical symptoms of acute aortic dissection include severe chest pain, hypotension or syncope and, hence, mimic acute myocardial infarction or pulmonary embolism. Advanced age, male gender, long-term history of arterial hypertension and the presence of aortic aneurysm confer the greatest population attributable risk...
September 5, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28807406/longitudinal-changes-in-segmental-aortic-stiffness-determined-by-cardiac-magnetic-resonance-in-children-and-young-adults-with-connective-tissue-disorders-the-marfan-loeys-dietz-and-ehlers-danlos-syndromes-and-nonspecific-connective-tissue-disorders
#11
Anthony Merlocco, Ronald V Lacro, Kimberlee Gauvreau, Nicole Rabideau, Michael N Singh, Ashwin Prakash
Aortic stiffness measured by cardiac magnetic resonance (CMR) in connective tissue disorder (CTD) patients has been previously shown to be abnormal and to be associated with adverse aortic outcomes. The rate of increase in aortic stiffness with normal aging has been previously described. However, longitudinal changes in aortic stiffness have not been characterized in CTD patients. We examined longitudinal changes in CMR-derived aortic stiffness in children and young adults with CTDs. A retrospective analysis of 50 children and young adults (median age, 20 years; range, 0...
October 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28737872/-loeys-dietz-syndrome-3-generations-4-familial-cases
#12
Carlos F Rosental, Silvina Neiling, Natalia Napoli, Claudia Villalba, Jorge Barretta, Horacio Capelli
Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with hypertelorism and bifid uvula. We describe four familial cases within three generations. The diagnosis, surgical management and followup will be addressed.
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28715511/endovascular-treatment-of-genetically-linked-aortic-diseases
#13
D Böckler, K Meisenbacher, A S Peters, C Grond-Ginsbach, M S Bischoff
BACKGROUND: The most important structural proteins of the vascular wall are collagen and elastin. Genetically linked connective tissue diseases lead to degeneration, aneurysm formation and spontaneous dissection or rupture of arteries. The most well-known are Marfan syndrome, vascular Ehlers-Danlos syndrome (type IV), Loeys-Dietz syndrome and familial aortic aneurysms and dissections. OBJECTIVE: This review article addresses the current status of endovascular treatment options for important connective tissue diseases...
2017: Gefässchirurgie: Zeitschrift Für Vaskuläre und Endovaskuläre Chirurgie
https://www.readbyqxmd.com/read/28679693/functional-validation-reveals-the-novel-missense-v419l-variant-in-tgfbr2-associated-with-loeys-dietz-syndrome-lds-impairs-canonical-tgf-%C3%AE-signaling
#14
Margot A Cousin, Michael T Zimmermann, Angela J Mathison, Patrick R Blackburn, Nicole J Boczek, Gavin R Oliver, Gwen A Lomberk, Raul A Urrutia, David R Deyle, Eric W Klee
TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. Because of the phenotypic overlap of these disorders, panel-based genetic testing is frequently used to confirm the clinical findings. Unfortunately in many cases, variants of uncertain significance (VUSs) obscure the genetic diagnosis until more information becomes available...
July 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28646716/histopathologic-differences-partially-distinguish-syndromic-aortic-diseases
#15
Kevin M Waters, Lisa M Rooper, Andrew Guajardo, Marc K Halushka
A variety of syndromic diseases such as Marfan syndrome, Loeys-Dietz syndrome, and bicuspid aortic valve with aneurysm along with risk factors of smoking and hypertension result in ascending aortic aneurysms and dissections. Historically, a complicated variety of terms have been used to describe a range of histopathologies that are present in resected specimens. As a result, no consistent patterns of histopathology have been reported. We used the recent Society for Cardiovascular Pathology/Association for European Cardiovascular Pathology consensus statement on nomenclature and diagnostic criteria for noninflammatory aortic disease to blindly evaluate 148 surgically resected specimens...
September 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28633258/stepwise-total-aortic-repairs-with-fenestrated-endografts-in-a-patient-with-loeys-dietz-syndrome
#16
Kenichi Hashizume, Hideyuki Shimizu, Masanori Honda, Shinya Inoue, Hidenobu Takaki, Kanako Hayashi, Hiroaki Kaneyama
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder (CTD) caused by mutations in the gene encoding transforming growth factor-β receptors Ⅰ and Ⅱ. Patients with LDS manifest spontaneous aneurysms and dissections of the aorta and peripheral artery. We report a successful treatment with a hybrid endovascular repair for a rapidly expanding thoracoabdominal aneurysm in a 41-year-old woman affected by LDS. To overcome the difficulties of anatomical and surgical repair, we applied an original strategy using surgeon-modified fenestrated endografts...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#17
William E Moody, Luke Pickup, Emma Plunkett, John Fryearson, Paul F Clift, R Katie Morris, Peter J Thompson, Sara Thorne, Lucy E Hudsmith
BACKGROUND: Pregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. METHODS: Fifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1...
June 2, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#18
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28606209/massive-aortic-root-aneurysm-in-an-infant-with-the-loeys-dietz-syndrome
#19
Tatiana Molina-Sánchez, Juan Calderón-Colmenero, Juan Pablo Sandoval
A 10-month-old girl with type I Loeys-Dietz syndrome developed a conspicuous aortic root aneurysm that was well demonstrated on chest X-ray/CT reconstruction. She underwent successful valve-spare repair of the ascending aorta.
August 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28604473/perioperative-anesthetic-management-for-cesarean-delivery-in-a-parturient-with-type-iv-loeys-dietz-syndrome-a-case-report
#20
Ravish Kapoor, David G Mann, Emad B Mossad
Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder predisposing to aortic and arterial aneurysms. Presentations are classified into subtypes based on gene mutations. Pregnancy in patients with LDS is considered very high risk due to the potential for aortic dissection and uterine rupture. We report successful management of an elective cesarean delivery in a 16-year-old patient with LDS type IV using epidural anesthesia. Perioperative considerations and multidisciplinary management specific to taking care of parturients with LDS are discussed...
September 15, 2017: A & A Case Reports
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