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Loeys Dietz syndrome

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...
October 14, 2016: Journal of Genetic Counseling
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 13, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
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
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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
Marinos Kontzialis, Gokhan Kuyumcu, Carlos A Zamora
No abstract text is available yet for this article.
September 2016: Neurology India
Robert J Beaulieu, Jennifer Lue, Bryan A Ehlert, Joshua C Grimm, Caitlin W Hicks, James H Black
INTRODUCTION: 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 2005-2015 were retrospectively reviewed...
August 10, 2016: Annals of Vascular Surgery
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
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...
August 10, 2016: Interventional Neuroradiology
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
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
Masaaki Sugawara, Fumiaki Oguma, Hiroyuki Hirahara
Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve...
August 2016: Kyobu Geka. the Japanese Journal of Thoracic Surgery
Jean-Michaël Mazzella, Michael Frank, Patrick Collignon, Maud Langeois, Anne Legrand, Xavier Jeunemaitre, Juliette Albuisson
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway related genes predispose to different types of LDS. Heterozygous loss-of-function variations in TGFβ2 have been shown to be responsible for a novel form of syndromic TAAD associated with an impairment of the mitral valve and cerebrovascular disease called Loeys-Dietz syndrome type 4 (LDS4). We report the clinical characterization of a LDS4 French family with sudden deaths and diffuse vascular lesions, caused by a frameshift mutation in TGFβ2 gene: c...
July 21, 2016: Clinical Genetics
Amalia Forte, Umberto Galderisi, Marilena Cipollaro, Marisa De Feo, Alessandro Della Corte
The term 'epigenetics' refers to heritable, reversible DNA or histone modifications that affect gene expression without modifying the DNA sequence. Epigenetic modulation of gene expression also includes the RNA interference mechanism. Epigenetic regulation of gene expression is fundamental during development and throughout life, also playing a central role in disease progression. The transforming growth factor β1 (TGF-β1) and its downstream effectors are key players in tissue repair and fibrosis, extracellular matrix remodelling, inflammation, cell proliferation and migration...
August 1, 2016: Clinical Science (1979-)
Jarred A Bressner, Gretchen L MacCarrick, Harry C Dietz, Paul D Sponseller
BACKGROUND: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder. We sought to determine the incidence of scoliosis in patients with LDS, characterize the spectrum of spinal deformity, determine the results of bracing and surgery, and define surgical complications. METHODS: Patients were selected from our institution's database of 183 patients with LDS. Imaging measurements were performed for 141 patients whose records permitted spinal evaluation. Deformity changes and complications after intervention were recorded for patients who underwent bracing or surgery, and associations were tested using Student t tests (significance, P<0...
July 2, 2016: Journal of Pediatric Orthopedics
Yashwant Agrawal, Vishal Gupta
We report the case of a 19-year-old man with a history of Loeys-Dietz syndrome (LDS), which was diagnosed when he had a Stanford type A aortic dissection. He also had multiple aneurysms including ones in the innominate, right common carotid, and right internal mammary arteries. He had had multiple procedures including Bentall's procedure, repeat sternotomy with complete arch and valve replacement, and coil embolization of internal mammary artery aneurysm in the past. His LDS was characterized by gene mutation for transforming growth factor-β receptor 1...
July 2016: Journal of the Saudi Heart Association
Angela E Lin, Caroline Michot, Valerie Cormier-Daire, Thomas J L'Ecuyer, G Paul Matherne, Barrett H Barnes, Jennifer B Humberson, Andrew C Edmondson, Elaine Zackai, Matthew J O'Connor, Julie D Kaplan, Makram R Ebeid, Joel Krier, Elizabeth Krieg, Brian Ghoshhajra, Mark E Lindsay
Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. The characteristic phenotype includes short stature, dysmorphic facial features, hearing loss, laryngotracheal anomalies, arthropathy, radiographic defects, intellectual disability, and a more recently appreciated spectrum of cardiovascular defects with a striking fibroproliferative response to surgical intervention. We report four newly described patients with typical features of Myhre syndrome who had (i) a mildly narrow descending aorta and restrictive cardiomyopathy; (ii) recurrent pericardial and pleural effusions; (iii) a large persistent ductus arteriosus with juxtaductal aortic coarctation; and (iv) restrictive pericardial disease requiring pericardiectomy...
October 2016: American Journal of Medical Genetics. Part A
Arata Abe, Chikako Nito, Yuki Sakamoto, Akane Nogami, Hiroyuki Hokama, Shiro Takahashi, Kumiko Kirita, Masayuki Ueda, Yoshiro Ishimaru, Kazumi Kimura
Spontaneous cervical artery dissection (sCAD) is a major cause of ischemic stroke in young adults. Frequently, sCAD involves multiple neck arteries, accounting for 13%-28% of the total sCAD cases. However, little is known about factors related to multiple sCAD. In this case, a 52-year-old man was admitted due to headache without aura. There was a personal history of migraine with aura and a family history of similar symptoms. The patient's younger brother had a left vertebral artery (VA) dissecting aneurysm and underwent endovascular occlusion of his parent artery at the age of 48...
August 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Kenji Minatoya, Yoshimasa Seike, Tatsuya Itonaga, Tatsuya Oda, Yosuke Inoue, Naonori Kawamoto, Syuhei Miura, Hiroshi Tanaka, Hiroaki Sasaki, Junjiro Kobayashi
OBJECTIVES: Spiral incision of the thoracic wall towards the tip of a scapula and approach through the sixth intercostal space has been a standard method for the replacement of thoracoabdominal and descending aortic aneurysms. However, the exposure of the proximal lesion of the aorta with the spiral incision is not always sufficient for patients with a lesion extending into the aortic arch. Patients with Marfan syndrome tend to have a flat chest, and exposure using left thoracotomy generally causes difficulty to operate on the aortic arch...
September 2016: Interactive Cardiovascular and Thoracic Surgery
Norifumi Takeda, Hiroki Yagi, Hironori Hara, Takayuki Fujiwara, Daishi Fujita, Kan Nawata, Ryo Inuzuka, Yuki Taniguchi, Mutsuo Harada, Haruhiro Toko, Hiroshi Akazawa, Issei Komuro
Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue that affects the cardiovascular, skeletal, ocular, pulmonary, and nervous systems and is usually caused by mutations in the FBN1 gene, which encodes fibrillin-1. MFS is traditionally considered to result from the structural weakness of connective tissue. However, recent investigations on molecular mechanisms indicate that increased transforming growth factor-β (TGF-β) activity plays a crucial role in the pathogenesis of MFS and related disorders, such as Loeys-Dietz syndrome (LDS), which is caused by mutation in TGF-β signaling-related genes...
May 25, 2016: International Heart Journal
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