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Loeys-Dietz

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28579256/marfan-syndrome-and-loeys-dietz-syndrome-in-children-a-multidisciplinary-team-experience
#13
Alejandra Manchola-Linero, Ferran Gran Ipiña, Gisela Teixidó-Tura, Fermina López Grondona, Ferran Rosés Noguer, Anna Sabaté-Rotés
No abstract text is available yet for this article.
June 1, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28555287/genetic-diagnostics-of-inherited-aortic-diseases-medical-strategy-analysis
#14
Y von Kodolitsch, K Kutsche
Genetic aortic syndromes (GAS) include Marfan, Loeys-Dietz, vascular Ehlers-Danlos, and Turner syndrome as well as congenital bicuspid aortic valve. The clinical management of these diseases has certain similarities and differences. We employed medical strategy analysis to test the utility of genetic diagnostics in the management of GAS. We chose the standpoint of the cardiologist for our analysis. In the first step, the medical goals in the management of GAS are specified. In the second step, the accuracy of genetic diagnostics for GAS is examined...
August 2017: Herz
https://www.readbyqxmd.com/read/28541520/cardiovascular-surgery-in-loeys-dietz-syndrome-types-1-4
#15
Kirsten Krohg-Sørensen, Per Snorre Lingaas, Runar Lundblad, Egil Seem, Benedicte Paus, Odd R Geiran
OBJECTIVES: The first publication of Loeys-Dietz syndrome (LDS) described aortic rupture at young ages. Experience with new LDS types showed that the clinical course varies, and thresholds for prophylactic surgery are discussed. As this is an uncommon disease, experience needs to be shared. METHODS: Retrospective review of patients with LDS types 1-4 undergoing cardiovascular surgery during the years 1991-2016. RESULTS: Thirty-five patients (including 6 children with LDS2) underwent 57 operations...
May 24, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28395736/generation-of-an-induced-pluripotent-stem-cell-line-from-a-loeys-dietz-syndrome-patient-with-transforming-growth-factor-beta-receptor-2-gene-mutation
#16
Kui Hu, Jun Li, Kai Zhu, Jinmiao Chen, Dingqian Liu, Yulin Wang, Yongxin Sun, Hao Lai, Chunsheng Wang
Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder, commonly caused by genetic mutation of transforming growth factor-beta receptor (TGFBR)-1 or TGFBR2. This study describes the generation of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells obtained from an LDS patient with TGFBR2 mutation (R193W). Analysis confirmed the cells had a normal karyotype, expressed typical pluripotency markers, had the ability to differentiate into all three germ layers in vivo, and retained the TGFBR2 mutation from the derived hiPSCs...
April 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28366467/aortic-root-replacement-for-children-with-loeys-dietz-syndrome
#17
Nishant D Patel, Diane Alejo, Todd Crawford, Narutoshi Hibino, Harry C Dietz, Duke E Cameron, Luca A Vricella
BACKGROUND: Loeys-Dietz syndrome (LDS) is an aggressive aortopathy with a proclivity for aortic aneurysm rupture and dissection at smaller diameters than other connective tissue disorders. We reviewed our surgical experience of children with LDS to validate our guidelines for prophylactic aortic root replacement (ARR). METHODS: We reviewed all children (younger than 18 years) with a diagnosis of LDS who underwent ARR at our institution. The primary endpoint was mortality, and secondary endpoints included complications and the need for further interventions...
May 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28344185/arthrogryposis-as-neonatal-presentation-of-loeys-dietz-syndrome-due-to-a-novel-tgfbr2-mutation
#18
REVIEW
Irene Valenzuela, Paula Fernández-Alvarez, Francina Munell, Angel Sanchez-Montanez, Gemma Giralt, Teresa Vendrell, Eduardo F Tizzano
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized mainly by cardiovascular, craniofacial and skeletal features. We report on a patient with LDS, whose prenatal examination was compatible with the diagnosis of arthrogryposis multiplex congenita. Neonatal assessment showed craniofacial and cardiovascular findings suggestive of LDS whose diagnosis was confirmed by the detection of a novel mutation (HGVN: NM_003242.5 (TGFBR2): c.1381T > C (p.(Cys461Arg))) in the TGFBR2 gene...
June 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28304197/endovascular-treatment-of-a-dural-arteriovenous-fistula-in-a-patient-with-loeys-dietz-syndrome-a-case-report
#19
Rie Aoki, Kittipong Srivatanakul, Takahiro Osada, Kazuko Hotta, Takatoshi Sorimachi, Mitsunori Matsumae, Hiroko Morisaki
Background Loeys-Dietz syndrome (LDS) is a recently recognized autosomal dominant connective tissue disease. The manifestations of LDS include vascular tortuosity, scoliosis, craniosynostosis, aneurysm and aortic dissections. Clinical presentation A 35-year-old woman treated with Stanford type B aortic dissection and breast cancer was referred to us for Borden type II dural arteriovenous fistula (dAVF) draining to the vein of Galen, involving the midline of tentorium cerebelli. The dAVF was treated successfully by combined transarterial and transvenous embolization...
April 2017: Interventional Neuroradiology
https://www.readbyqxmd.com/read/28252349/a-late-presentation-of-loeys-dietz-syndrome-associated-with-an-aortic-root-aneurysm
#20
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...
March 2017: Annals of the Royal College of Surgeons of England
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