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Vascular ehler danlos

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https://www.readbyqxmd.com/read/28342678/spontaneous-coronary-artery-intramural-hematoma-in-a-patient-with-vascular-ehlers-danlos-syndrome-serial-findings-in-coronary-computed-tomographic-angiography
#1
Takayoshi Toba, Shumpei Mori, Atsushi Yatani, Yoichiro Sugisaki, Tomomi Akita, Naoto Sasaki, Hiromasa Otake, Toshiro Shinke, Hiroyuki Mori, Tatsuya Nishii, Atsushi K Kono, Ken-Ichi Hirata
No abstract text is available yet for this article.
March 21, 2017: Journal of Cardiovascular Computed Tomography
https://www.readbyqxmd.com/read/28306228/diagnosis-natural-history-and-management-in-vascular-ehlers-danlos-syndrome
#2
Peter H Byers, John Belmont, James Black, Julie De Backer, Michael Frank, Xavier Jeunemaitre, Diana Johnson, Melanie Pepin, Leema Robert, Lynn Sanders, Nigel Wheeldon
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. The frequency is estimated as 1/50,000-1/200,000 and results from pathogenic variants in COL3A1, which encodes the chains of type III procollagen, a major protein in vessel walls and hollow organs. Initial diagnosis depends on the recognitions of clinical features, including family history. Management is complex and requires multiple specialists who can respond to and manage the major complications...
March 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28306225/the-ehlers-danlos-syndromes-rare-types
#3
REVIEW
Angela F Brady, Serwet Demirdas, Sylvie Fournel-Gigleux, Neeti Ghali, Cecilia Giunta, Ines Kapferer-Seebacher, Tomoki Kosho, Roberto Mendoza-Londono, Michael F Pope, Marianne Rohrbach, Tim Van Damme, Anthony Vandersteen, Caroline van Mourik, Nicol Voermans, Johannes Zschocke, Fransiska Malfait
The Ehlers-Danlos syndromes comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders, which are characterized by joint hypermobility, skin hyperextensibility, and tissue friability. In the Villefranche Nosology, six subtypes were recognized: The classical, hypermobile, vascular, kyphoscoliotic, arthrochalasis, and dermatosparaxis subtypes of EDS. Except for the hypermobile subtype, defects had been identified in fibrillar collagens or in collagen-modifying enzymes. Since 1997, a whole spectrum of novel, clinically overlapping, rare EDS-variants have been delineated and genetic defects have been identified in an array of other extracellular matrix genes...
March 2017: American Journal of Medical Genetics. Part C, Seminars in 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
#4
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/28286774/orthostatic-intolerance-and-postural-orthostatic-tachycardia-syndrome-in-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type-neurovegetative-dysregulation-or-autonomic-failure
#5
Claudia Celletti, Filippo Camerota, Marco Castori, Federica Censi, Laura Gioffrè, Giovanni Calcagnini, Stefano Strano
Background. Joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly characterized by generalized joint hypermobility, skin texture abnormalities, and visceral and vascular dysfunctions, also comprising symptoms of autonomic dysfunction. This study aims to further evaluate cardiovascular autonomic involvement in JHS/EDS-HT by a battery of functional tests. Methods. The response to cardiovascular reflex tests comprising deep breathing, Valsalva maneuver, 30/15 ratio, handgrip test, and head-up tilt test was studied in 35 JHS/EDS-HT adults...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28183226/a-new-col3a1-mutation-in-ehlers-danlos-syndrome-vascular-type-with-different-phenotypes-in-the-same-family
#6
Francesca Cortini, Barbara Marinelli, Silvia Romi, Agostino Seresini, Angela Cecilia Pesatori, Manuela Seia, Nicola Montano, Alessandra Bassotti
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#7
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/28127132/understanding-vascular-type-ehlers-danlos-syndrome-and-avoiding-vascular-complications
#8
Jocelyn Carter, Andrew Z Fenves
Vascular-type Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder caused by a mutation in type III procollagen. It has the highest mortality rate among the six types of EDS. Patients with this syndrome often have typical medical histories and a characteristic physical examination. We present two patients with this rare disorder and highlight the diagnostic and treatment challenges.
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28119937/congenital-chylous-ascites-and-ehlers-danlos-syndrome-type-vi
#9
Anna K Ermarth, John Pohl, Brittany Esty, Jessica K Sempler, John C Carey, Molly A O'Gorman
We report the first observation of a patient with contgenital chylous ascites (CCA) and Ehlers-Danlos syndrome type VI due to primary lymphatic defect with additional vascular anomaly. CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. We also review the patient's treatment course mitigated with octreotide and total parenteral nutritional support, as there are no current established guidelines for CCA. Early recognition of possible association with Ehlers-Danlos syndrome is important for quick intervention and successful management of pediatric patients...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28102596/delineation-of-ehlers-danlos-syndrome-phenotype-due-to-the-c-934c-t-p-arg312cys-mutation-in-col1a1-report-on-a-three-generation-family-without-cardiovascular-events-and-literature-review
#10
Marina Colombi, Chiara Dordoni, Marina Venturini, Arianna Zanca, Piergiacomo Calzavara-Pinton, Marco Ritelli
Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28102592/six-uneventful-pregnancy-outcomes-in-an-extended-vascular-ehlers-danlos-syndrome-family
#11
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27931023/increased-need-for-gastrointestinal-surgery-and-increased-risk-of-surgery-related-complications-in-patients-with-ehlers-danlos-syndrome-a-systematic-review
#12
Marie-Louise Kulas Søborg, Julie Leganger, Jacob Rosenberg, Jakob Burcharth
BACKGROUND/AIMS: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. METHODS: A systematic search was conducted in PubMed, Embase, and Scopus to identify relevant studies...
2017: Digestive Surgery
https://www.readbyqxmd.com/read/27826465/collagenopathies-implications-for-abdominal-wall-reconstruction-a-systematic-review
#13
Bridget Harrison, Kyle Sanniec, Jeffrey E Janis
BACKGROUND: The etiology of hernia formation is strongly debated and includes mechanical strain, prior surgical intervention, abnormal embryologic development, and increased intraabdominal pressure. Although the most common inciting cause in ventral hernias is previous abdominal surgery, many other factors contribute. We explore this etiology through an examination of the current literature and existing evidence on patients with collagen vascular diseases, such as Ehlers-Danlos syndrome...
October 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/27799058/next-generation-sequencing-and-a-novel-col3a1-mutation-associated-with-vascular-ehlers-danlos-syndrome-with-severe-intestinal-involvement-a-case-report
#14
Francesca Cortini, Barbara Marinelli, Manuela Seia, Barbara De Giorgio, Angela Cecilia Pesatori, Nicola Montano, Alessandra Bassotti
BACKGROUND: The vascular type of Ehlers-Danlos syndrome is an autosomal dominant connective tissue disorder caused by a mutation in the COL3A1 gene encoding pro-alpha1 chain of type III collagen. The vascular type of Ehlers-Danlos syndrome causes severe fragility of connective tissues with arterial and intestinal ruptures and complications in surgical and radiological treatments. CASE PRESENTATION: We present a case of a 38-year-old Italian woman who was diagnosed as having the vascular type of Ehlers-Danlos syndrome...
October 31, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27745832/periodontal-ehlers-danlos-syndrome-is-caused-by-mutations-in-c1r-and-c1s-which-encode-subcomponents-c1r-and-c1s-of-complement
#15
Ines Kapferer-Seebacher, Melanie Pepin, Roland Werner, Timothy J Aitman, Ann Nordgren, Heribert Stoiber, Nicole Thielens, Christine Gaboriaud, Albert Amberger, Anna Schossig, Robert Gruber, Cecilia Giunta, Michael Bamshad, Erik Björck, Christina Chen, David Chitayat, Michael Dorschner, Marcus Schmitt-Egenolf, Christopher J Hale, David Hanna, Hans Christian Hennies, Irene Heiss-Kisielewsky, Anna Lindstrand, Pernilla Lundberg, Anna L Mitchell, Deborah A Nickerson, Eyal Reinstein, Marianne Rohrbach, Nikolaus Romani, Matthias Schmuth, Rachel Silver, Fulya Taylan, Anthony Vandersteen, Jana Vandrovcova, Ruwan Weerakkody, Margaret Yang, F Michael Pope, Peter H Byers, Johannes Zschocke
Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals with pEDS to identify the locus, characterize the clinical details in those with defined genetic causes, and try to understand the physiological basis of the condition...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27743245/a-review-of-the-genetics-of-intracranial-berry-aneurysms-and-implications-for-genetic-counseling
#16
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/27687326/arterial-complications-of-vascular-ehlers-danlos-syndrome
#17
REVIEW
Matthew J Eagleton
BACKGROUND: Vascular Ehlers-Danlos syndrome (EDS) is a relatively rare genetic syndrome that occurs owing to disorders in the metabolism of fibrillary collagen. These defects affect the soft connective tissues resulting in abnormalities in the skin, joints, hollow organs, and blood vessels. Patients with these defects frequently present at a young age with spontaneous arterial complications involving the medium-sized arteries. Complications involving the hollow organs, such as spontaneous colonic perforation, are observed as well...
December 2016: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/27555128/peripheral-nerve-block-in-patients-with-ehlers-danlos-syndrome-hypermobility-type-a-case-series
#18
Andrew E Neice, Eryn E Stubblefield, Glenn E Woodworth, Michael F Aziz
STUDY OBJECTIVE: Ehlers-Danlos syndrome (EDS) is an inherited disease characterized by defects in various collagens or their post translational modification, with an incidence estimated at 1 in 5000. Performance of peripheral nerve block in patients with EDS is controversial, due to easy bruising and hematoma formation after injections as well as reports of reduced block efficacy. The objective of this study was to review the charts of EDS patients who had received peripheral nerve block for any evidence of complications or reduced efficacy...
September 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27488172/vascular-type-ehlers-danlos-syndrome-is-associated-with-platelet-dysfunction-and-low-vitamin-d-serum-concentration
#19
Albert Busch, Sabine Hoffjan, Frauke Bergmann, Birgit Hartung, Helena Jung, Daniela Hanel, Andeas Tzschach, Janos Kadar, Yskert von Kodolitsch, Christoph-Thomas Germer, Heiner Trobisch, Erwin Strasser, René Wildenauer
BACKGROUND: The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable tissue and the altered coagulation contribute to the challenge in treatment strategies. Until now there is little information about clotting characteristics that might influence hemostasis decisively and eventually worsen emergency situations. RESULTS: 22 vascular type EDS patients were studied for hemoglobin, platelet volume and count, Quick and activated partial thromboplastin time, fibrinogen, factor XIII, von Willebrand disease, vitamin D and platelet aggregation by modern standard laboratory methods...
August 3, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27440102/phenotypic-variability-and-diffuse-arterial-lesions-in-a-family-with-loeys-dietz-syndrome-type-4
#20
J-M Mazzella, M Frank, P Collignon, M Langeois, A Legrand, X Jeunemaitre, J 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...
March 2017: Clinical Genetics
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