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Loeys-Dietz

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https://www.readbyqxmd.com/read/28225382/extreme-phenotypes-of-loeys-dietz-syndrome
#1
Madeleine J Tooley, Graham A Stuart, Andrew J Tometzki, Ann Oliver, Ingrid J Scurr
No abstract text is available yet for this article.
February 20, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28209770/are-patients-with-loeys-dietz-syndrome-misdiagnosed-with-beals-syndrome
#2
Rebecca Woolnough, Andrew Dhawan, Kimberly Dow, Jagdeep S Walia
Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. It shares a number of phenotypic features with Loeys-Dietz syndrome (Online Mendelian Inheritance in Man: 609192). Loeys-Dietz syndrome, initially described in 2005, is associated with mutations for the transforming growth factor β receptor and is characterized by findings of cerebral, thoracic, and abdominal arterial aneurysms...
February 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28185953/a-novel-smad3-mutation-caused-multiple-aneurysms-in-a-patient-without-osteoarthritis-symptoms
#3
Audrey Courtois, Wouter Coppieters, Vincent Bours, Jean-Olivier Defraigne, Alain Colige, Natzi Sakalihasan
Heterozygous mutations in the SMAD3 gene were recently described as the cause of a form of non-syndromic familial aortic thoracic aneurysm and dissection (FTAAD) transmitted as an autosomal dominant disorder and often associated with early-onset osteoarthritis. This new clinical entity, called aneurysms-osteoarthritis syndrome (AOS) or Loeys-Dietz syndrome 3 (LDS3), is characterized by aggressive arterial damages such as aneurysms, dissections and tortuosity throughout the arterial tree. We report, here, the case of a 45 year-old man presenting multiple visceral arteries and abdominal aortic aneurysms but without dissection of the thoracic aorta and without any sign of osteoarthritis...
February 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28163941/novel-pathogenic-variant-in-tgfbr2-confirmed-by-molecular-modeling-is-a-rare-cause-of-loeys-dietz-syndrome
#4
Michael T Zimmermann, Raul A Urrutia, Patrick R Blackburn, Margot A Cousin, Nicole J Boczek, Eric W Klee, Colleen Macmurdo, Paldeep S Atwal
Loeys-Dietz syndrome (LDS) is a connective tissue disorder characterized by vascular findings of aneurysm and/or dissection of cerebral, thoracic, or abdominal arteries and skeletal findings. We report a case of a novel pathogenic variant in TGFBR2 and phenotype consistent with classic LDS. The proband was a 10-year-old presenting to the genetics clinic with an enlarged aortic root (Z-scores 5-6), pectus excavatum, and congenital contractures of the right 2nd and 3rd digit. Molecular testing of TGFBR2 was sent to a commercial laboratory and demonstrated a novel, likely pathogenic, variant in exon 4, c...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#5
Ryan S D'Souza, Dobromir Slavov, Sharon Graw, Jean Jirikowic, Emily Todd, Robert K Rogers, Matthew R Taylor
BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys--Dietz syndromes encompass the principal diagnosable phenotypes along the genetic vascular disorder spectrum, a substantial subset of patients cannot be adequately classified under a known diagnosis through clinical or molecular diagnostic methods...
January 31, 2017: International Angiology: a Journal of the International Union of Angiology
https://www.readbyqxmd.com/read/27955909/cardiovascular-operations-for-loeys-dietz-syndrome-intermediate-term-results
#6
Nishant D Patel, Todd Crawford, J Trent Magruder, Diane E Alejo, Narutoshi Hibino, James Black, Harry C Dietz, Luca A Vricella, Duke E Cameron
OBJECTIVES: Early experience with Loeys-Dietz syndrome (LDS) suggested an aggressive aortopathy with high risk of aneurysm dissection and rupture at young ages and at smaller aortic diameters than in other connective tissue disorders. We reviewed our experience with LDS to re-examine our indications and outcomes of surgical management. METHODS: We reviewed all patients with a diagnosis of LDS who underwent cardiovascular surgery at our institution. The primary endpoint was mortality, and secondary endpoints included postoperative complications and need for reintervention...
November 16, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27919459/aortic-surgery-in-loeys-dietz-syndrome-excellent-results-but-close-surveillance-is-necessary
#7
EDITORIAL
John S Ikonomidis
No abstract text is available yet for this article.
November 16, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27782106/a-missense-tgfb2-variant-p-arg320cys-causes-a-paradoxical-and-striking-increase-in-aortic-tgfb1-2-expression
#8
Raya Al Maskari, Yasmin, S Cleary, Nikki Figg, Sarju Mehta, Doris Rassl, Ian Wilkinson, Kevin M O'Shaughnessy
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder with a range of cardiovascular, skeletal, craniofacial and cutaneous manifestations. LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. We sought to investigate its molecular basis in a new pedigree. We identified a missense variant p.(Arg320Cys) (NM_003238.3) in a highly evolutionary conserved region of TGFB2 in a new LDS type 4 pedigree with multiple cases of aortic aneurysms and dissections...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27780078/loeys-dietz-syndrome-and-pregnancy-the-first-ten-years
#9
REVIEW
Charlotte J Frise, Alex Pitcher, Lucy Mackillop
The physiological and haemodynamic changes that occur in pregnancy and the postpartum period increase the risk of aortic dissection. Loeys-Dietz syndrome results from mutations in the genes encoding components of the TGF-β signalling pathway; aortic pathology is of particular concern in this condition but other vascular abnormalities can also be present. Significant maternal morbidity and mortality has been described in patients with Loeys-Dietz syndrome, but successful and uncomplicated pregnancies are still possible...
January 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27743245/a-review-of-the-genetics-of-intracranial-berry-aneurysms-and-implications-for-genetic-counseling
#10
REVIEW
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
February 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27733734/decreased-aortic-elasticity-in-children-with-marfan-syndrome-or-loeys-dietz-syndrome
#11
Yohei Akazawa, Noriko Motoki, Akira Tada, Shoko Yamazaki, Akira Hachiya, Satoshi Matsuzaki, Motoko Kamiya, Tomohiko Nakamura, Tomoki Kosho, Yuji Inaba
BACKGROUND: The characteristics of aortic elasticity are unclear in children with connective tissue disorders (CTDs) such as Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS), especially in those with a non-dilated aortic root (AoR). This study evaluated the aortic elasticity properties of pediatric MFS and LDS patients with either dilated or non-dilated AoR.Methods and Results:The 31 children with MFS or LDS were classified into dilated (Z score of AoR diameter ≥2.5; n=17) or non-dilated (Z score of AoR diameter <2...
October 25, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/27694248/intercostal-artery-aneurysms-a-rare-presentation-in-loey-s-dietz-syndrome
#12
Senthil Kumar Subbian, Terence Chee Wen Lim, Lynette Li San Teo, Sriram Shankar
No abstract text is available yet for this article.
October 2, 2016: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/27625523/modified-pediatric-bentall-procedure-a-novel-technique-in-a-rare-case
#13
Gananjay G Salve, Satish R Javali, Bharat V Dalvi, Shivaprakash Krishnanaik
Aneurysms of ascending aorta are rarely seen in pediatric age group. Only few cases with Marfans syndrome have been reported in the literature. Preferred treatment for these children has been the standard Bentall procedure (aortic root replacement with composite graft prosthesis). We report a 4-year-old male child with huge aneurysm of ascending aorta and aortic root dilation with severe aortic regurgitation, having phenotypic features of Loeys-Dietz syndrome type I. He underwent Bentall procedure with a novel modification (medial trap-door technique for coronary reimplantation)...
September 2016: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/27625276/loeys-dietz-syndrome
#14
Marinos Kontzialis, Gokhan Kuyumcu, Carlos A Zamora
No abstract text is available yet for this article.
September 2016: Neurology India
https://www.readbyqxmd.com/read/27624358/a-loeys-dietz-patient-with-a-transatlantic-odyssey-repeated-aortic-root-surgery-ending-with-a-huge-left-main-coronary-aneurysm
#15
Thierry Carrel, Florian Schoenhoff, Duke Cameron
We present a patient who required several aortic root procedures. Finally, a huge aneurysm of the left main coronary artery required emergency surgery after a failed transcatheter procedure.
September 13, 2016: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/27521820/surgical-management-of-peripheral-vascular-manifestations-of-loeys-dietz-syndrome
#16
Robert J Beaulieu, Jennifer Lue, Bryan A Ehlert, Joshua C Grimm, Caitlin W Hicks, James H Black
BACKGROUND: Loeys-Dietz syndrome (LDS) is characterized by a triad of aortic aneurysm, vessel tortuosity, and hypertelorism. LDS patients often harbor additional aneurysms and dissections throughout their vasculature. The optimal management of these additional lesions is poorly understood. Accordingly, we sought to analyze our experience with the peripheral arterial manifestations of LDS. METHODS: Adult and pediatric LDS patients who sought treatment at a single institution from 2005 to 2015 were retrospectively reviewed...
January 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/27521346/single-stage-total-arch-replacement-including-resection-of-kommerell-diverticulum-in-a-patient-with-loeys-dietz-syndrome
#17
Chin Siang Ong, Yuhei Kasai, Souta Fukushima, Narutoshi Hibino, Trent Magruder, Alejandro Suarez-Pierre, Duke Cameron, Luca Vricella
Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder associated with aortic aneurysmal disease. Kommerell diverticulum (KD) is a rare aortic diverticulum, for which the indication for surgery and the surgical techniques remain subjects of debate. We describe our experience with a successful total aortic arch replacement including KD resection through a median sternotomy for a pediatric patient with LDS.
September 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27511817/neurovascular-manifestations-of-connective-tissue-diseases-a-review
#18
REVIEW
Sarasa T Kim, Waleed Brinjikji, Giuseppe Lanzino, David F Kallmes
Patients with connective tissue diseases are thought to be at a higher risk for a number of cerebrovascular diseases such as intracranial aneurysms, dissections, and acute ischemic strokes. In this report, we aim to understand the prevalence and occurrences of such neurovascular manifestations in four heritable connective tissue disorders: Marfan syndrome, Ehlers-Danlos syndrome, Neurofibromatosis Type 1, and Loeys-Dietz syndrome. We discuss the fact that although there are various case studies reporting neurovascular findings in these connective tissue diseases, there is a general lack of case-control and prospective studies investigating the true prevalence of these findings in these patient populations...
December 2016: Interventional Neuroradiology
https://www.readbyqxmd.com/read/27508510/increased-prevalence-of-inflammatory-bowel-disease-in-patients-with-mutations-in-genes-encoding-the-receptor-subunits-for-tgf%C3%AE
#19
Anthony L Guerrerio, Pamela A Frischmeyer-Guerrerio, Chengrui Huang, Yuqiong Wu, Talin Haritunians, Dermot P B McGovern, Gretchen L MacCarrick, Steven R Brant, Harry C Dietz
BACKGROUND: TGFβ is a multifunctional cytokine that is critical in regulating mucosal immunity. Murine studies have revealed that disruption of canonical TGFβ signaling leads to systemic inflammation including colitis. Loeys-Dietz syndrome (LDS) results from heterozygous mutations in the genes encoding the subunits of the TGFβ receptor. METHODS: All patients with confirmed mutations in TGFBR1 or TGFBR2, seen in the Johns Hopkins Connective Tissue Disorders clinic, were asked to participate in the study...
September 2016: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/27487644/loeys-dietz-syndrome-perioperative-anesthesia-considerations
#20
Judy G Johnson, Jacob P Bray, William H Risher, Alan David Kaye
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disease related to genetic mutations in receptors for the cytokine transforming growth factor-receptor type 1 (TGFB-R1) or 2 gene (TGFB-R2) on the cell surface. LDS results in abnormal protein synthesis and dysfunctional connective tissue, which can result in unique cardiovascular anesthesia challenges related to perioperative management. Patients with LDS may manifest hypertelorism, bifid uvula or cleft palate, and arterial tortuosity. Virtually all LDS patients show some type of abnormal skin findings and bleeding tendency...
June 2016: Middle East Journal of Anesthesiology
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