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Loeys Dietz syndrome

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
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
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
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...
February 1, 2018: Human Mutation
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
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
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
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
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
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
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
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
Sung-Min Cho, Rodica Di Lorenzo, Jason Mathew, Andrew B Buletko
No abstract text is available yet for this article.
October 3, 2017: Neurology
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
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
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
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
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
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
Elisabeth Gillis, Ajay A Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A Mohamed, Seema Mital, Luc Mertens, Hanna M Björck, Anders Franco-Cereceda, Andrew S McCallion, Lut Van Laer, Judith M A Verhagen, Ingrid M B H van de Laar, Marja W Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C Dietz, Aline Verstraeten, Bart L Loeys
Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Historically, BAV-related TAA was considered as a hemodynamic consequence of the valve defect. Multiple lines of evidence currently suggest that genetic determinants contribute to the pathogenesis of both BAV and TAA in affected individuals. Despite high heritability, only very few genes have been linked to BAV or BAV/TAA, such as NOTCH1, SMAD6, and MAT2A...
2017: Frontiers in Physiology
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