A síndrome de Ehlers-Danlos tipo IV, também conhecida como o tipo vascular da síndrome de Ehlers-Danlos (SDE), é uma doença hereditária do tecido conjuntivo definida por características faciais características (acrogeria) na maioria dos pacientes, pele translúcida com vasos subcutâneos altamente visíveis no tronco e parte inferior das costas, hematomas fáceis e complicações arteriais, digestivas e uterinas graves, que raramente são observadas, se é que são, observadas nas outras formas de SDE.
Introdução
O que você precisa saber de cara
A síndrome de Ehlers-Danlos tipo IV, também conhecida como o tipo vascular da síndrome de Ehlers-Danlos (SDE), é uma doença hereditária do tecido conjuntivo definida por características faciais características (acrogeria) na maioria dos pacientes, pele translúcida com vasos subcutâneos altamente visíveis no tronco e parte inferior das costas, hematomas fáceis e complicações arteriais, digestivas e uterinas graves, que raramente são observadas, se é que são, observadas nas outras formas de SDE.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 44 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 128 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12
Secreted, extracellular space, extracellular matrix
Ehlers-Danlos syndrome, vascular type
A severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
Medicamentos e terapias
Mecanismo: Type-1 angiotensin II receptor antagonist
Variantes genéticas (ClinVar)
1,312 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
15 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Ehlers-Danlos vascular
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Ehlers-Danlos vascular
Centros para Síndrome Ehlers-Danlos vascular
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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15 ensaios clínicos encontrados, 6 ativos.
Publicações mais relevantes
Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.
Spontaneous coronary artery dissection (SCAD) is a cause of acute myocardial infarction predominantly affecting adult women. A proportion of SCAD cases are associated with rare heritable connective tissue disorders. Vascular EDS (vEDS), due to deleterious variants in COL3A1, is one of the most common of these. Our aim was to identify specific features of SCAD in vEDS which may aid patient selection for genetic testing. A systematic review of published cases of individuals with SCAD and vEDS was conducted. Additionally, patients with SCAD and genetically confirmed vEDS (SCAD-vEDS) were identified through the UK national EDS service and UK SCAD registry. Data were collected on presentation, management and extra-cardiac findings. Angiography was compared with an age and sex-matched, exome sequenced, control cohort with SCAD but without vEDS (SCAD-nonvEDS). Data from ten SCAD-vEDS patients were identified. There was a lower average age of SCAD and higher proportion of males in individuals with SCAD-vEDS, however differences should be interpreted carefully given cohort size. Fifty-six cases of SCAD-vEDS were identified through systematic review. Systemic features were present in most but not all cases. This report presents a new, angiographically characterised case-control cohort along with a systematic review of the current literature. Whilst clinical differences appear between the SCAD-vEDS and SCAD-nonvEDS groups, these are insufficient to accurately distinguish SCAD-vEDS from the general SCAD population. All individuals with SCAD should be evaluated for underlying vEDS but clinical assessment will miss some cases. Wider genetic testing in some SCAD patients may be merited to enable appropriate management. Systematic review registration: https://www.crd.york.ac.uk/prospero/536751 Identifier: 536751.
Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene.
We report the generation and characterization of a collagen III-mutant human iPSC line (JHUi007-A) and an isogenic gene-edited control (JHUi007-A-1). Reprogramming of dermal fibroblasts, obtained from a patient with vascular Ehlers-Danlos syndrome (vEDS) carrying the COL3A1 c.755G>T variant, was performed using integration-free Sendai virus. Isogenic controls were produced by CRISPR/Cas9 gene editing. Both lines displayed typical morphologies, expressed stemness factors, formed derivatives of all three germ layers, and maintained a normal karyotype. These lines readily differentiated into vascular smooth muscle cells with cytoskeletal differences between vEDS and control cells, confirming the utility of this resource to study disease processes.
Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.
Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.
Ehlers-Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non-vascular Ehlers-Danlos syndromes compared to healthy controls. In this single-center, cross-sectional study, 14 patients molecularly diagnosed with non-vascular Ehlers-Danlos syndromes and 30 matched healthy controls underwent a complete clinical and radiological oral examination. Data were compared using chi-squared, Fisher's exact, Student's t-tests, or Wilcoxon tests as appropriate. Compared to controls, patients with non-vascular Ehlers-Danlos syndromes had a significantly higher prevalence of temporomandibular disorders (64.3% vs. 16.7%; p = 0.004), gingivitis (85.7% vs. 56.7%; p = 0.017), and lingual parafunction (57.1% vs. 16.7%; p = 0.012). Anatomical variations were also more frequent, including atrophy of the lingual (85.7% vs. 10.0%; p < 0.001) and inferior labial frenula (78.6% vs. 20.0%; p < 0.001), pulpal retractions (61.5% vs. 27.6%; p = 0.047), and dental root hypoplasia (57.1% vs. 20.0%; p = 0.034). Our findings suggest that patients with non-vascular Ehlers-Danlos syndromes present a distinct pattern with oral manifestations. These findings, including notably frenula atrophy and specific dental anomalies. These oral findings commonly observed in non-vascular Ehlers-Danlos syndromes patients can aid in diagnosis and underscore the need for specialized dental care.
Vascular Ehlers-Danlos syndrome with ruptured thoracic aortic aneurysm complicated by vascular graft and endograft infection and aortobronchial fistula.
The combination of vascular graft or endograft infection and aortic hereditary disease is extremely rare and just as challenging. We report the case of a 40-year-old man presenting with a ruptured saccular aortic isthmus aneurysm treated with thoracic endovascular aortic repair, complicated by vascular graft or endograft infection with an aortobronchial fistula and multiple pseudoaneurysms. Despite complete graft explantation, prolonged antibiotic therapy, and additional endovascular and open interventions, he developed recurrent pseudoaneurysms with an ultimately fatal outcome. Genetic testing revealed a pathogenic COL3A1 mutation consistent with vascular Ehlers-Danlos syndrome. This case illustrates the diagnostic and therapeutic dilemma at the intersection of infection and heritable aortic diseases, underscoring the need for multidisciplinary management in complex aortic pathology.
Publicações recentes
A safe seal: controlled flow arrest with dual balloon protection for embolisation of a large spontaneous splenic arteriovenous fistula-a case report.
Spectrum of Respiratory Involvement in Ehlers-Danlos Syndrome: Insights From a Case Report.
Returning to Exercise After Valsalva-Induced Carotid Artery Dissection.
🥇 Meta-análiseSpontaneous pneumothorax-associated with genetic disorders.
What Every Vascular Surgeon Should Know About Vascular Ehlers-Danlos Syndrome.
📚 EuropePMC324 artigos no totalmostrando 197
Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.
Orphanet journal of rare diseasesSpontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.
European journal of human genetics : EJHGOral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.
Oral diseasesVascular Ehlers-Danlos syndrome with ruptured thoracic aortic aneurysm complicated by vascular graft and endograft infection and aortobronchial fistula.
Journal of vascular surgery cases and innovative techniquesGeneration of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene.
Stem cell researchContemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.
Annals of vascular surgerySex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome.
Journal of vascular surgerySpontaneous celiac artery dissection revealing vascular Ehlers-Danlos syndrome.
The American journal of medicine[Open Thoracoabdominal Aortic Replacement for Midaortic Syndrome and COL3A1 Variant].
Zentralblatt fur ChirurgiePulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.
Pathology internationalA de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome.
Advances in laboratory medicineChest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.
Journal of the Korean Society of RadiologyChallenges in the Management of Patients with Vascular Ehlers-Danlos Syndrome: Lessons from three Clinical Cases.
European journal of case reports in internal medicineUnderlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.
Cardiology in reviewAortic Tissue Proteome Alterations in Vascular Ehlers-Danlos Syndrome.
Journal of proteome researchHybrid prosthesis in frozen elephant trunk procedures for hereditary thoracic aortic diseases: a 14-year single-aortic center experience.
Journal of cardiothoracic surgeryPulmonary vascular Ehlers-Danlos syndrome with hemoptysis as the main manifestation: CT and histologic findings of lung parenchymal damage.
Orphanet journal of rare diseasesMultimodality Imaging for Thoracic Aortic Aneurysms.
Cardiology clinicsAggressive clinical course of vascular Ehlers-Danlos syndrome with a novel COL3A1 variant.
BMJ case reportsPostpartum Presentation of a Variant of Uncertain Significance in COL3A1: A Case Report.
American journal of perinatologyPercutaneous transhepatic coil embolisation of a common hepatic artery aneurysm in vascular Ehlers-Danlos syndrome.
CVIR endovascularIntramuscular hemorrhage during rehabilitation in a post-stroke patient with vascular Ehlers-Danlos syndrome: a case report and review of spasticity-related muscle injury.
Frontiers in rehabilitation sciencesCaution Remains Warranted in Pregnancy With Vascular Ehlers-Danlos Syndrome.
BJOG : an international journal of obstetrics and gynaecologyA Rare Tetrad of Sickle Cell Disease, Vascular Ehlers-Danlos Syndrome, Primary Ciliary Dyskinesia, and Phelan-McDermid Syndrome in a Saudi Child: A Complex Multisystem Pediatric Case Report.
Pediatric reportsVaried Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome.
JACC. Case reports[Vascular Ehlers-Danlos syndrome discovered after splenic aneurysm rupture: a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyConservative Management of Massive Retroperitoneal Hemorrhage in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report.
Vascular specialist internationalA unique case of prenatal diagnosis of vascular Ehlers-Danlos syndrome.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsCase Report: A rare presentation of vascular Ehlers-Danlos syndrome with a massive hemothorax and a chest wall hematoma.
Frontiers in medicineExploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.
Scientific reportsFragility in Focus: Gallbladder Rupture in a Patient With Vascular Ehlers-Danlos Syndrome.
ANZ journal of surgeryOutcomes of fenestrated-branched endovascular aortic repair of thoracoabdominal aortic aneurysms in patients with heritable thoracic aortic diseases.
JTCVS techniquesVascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report.
European journal of medical genetics[Diagnostic value of whole exome sequencing in difficult and complicated pulmonary diseases].
Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseasesDiagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective.
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.VSeverely Kinked Ascending Aorta Prosthetic Graft Causing Thromboembolism.
JACC. Case reportsDecoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.
Frontiers in cell and developmental biologyPediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.
Orphanet journal of rare diseasesEarly diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium.
Genetics in medicine openThe Impact of Celiprolol in Vascular Ehlers-Danlos Syndrome: A Systematic Review of Current Evidence.
Medical sciences (Basel, Switzerland)Procedural decisions in the context of vascular substrate vulnerability: Lessons from vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesArterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndromes: Moving Closer to Personalized Surveillance Imaging.
Journal of the American College of CardiologyDifferences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.
Journal of the American College of CardiologyDefective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.
CellsArteriovenous fistula following radial artery cannulation in a patient with vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesCerebral air embolism in vascular Ehlers-Danlos syndrome: a retrospective diagnosis.
Practical neurologyThe aortic and arterial vulnerability spectrum: A conceptual biological framework for risk stratification and precision surgical decision-making in aortopathy and arteriopathy.
Journal of vascular surgeryLack of overt bleeding or platelet dysfunction in a mouse model of vascular Ehlers-Danlos syndrome.
Journal of thrombosis and haemostasis : JTHHematomas after coughing: a case description of vascular Ehlers-Danlos syndrome.
Quantitative imaging in medicine and surgeryVascular Ehlers-Danlos syndrome: a heritable condition with potentially fatal consequences.
The Lancet. RheumatologyManagement of Direct Internal Carotid-Cavernous Sinus Fistula in a Patient with Ehlers-Danlos Syndrome: A Case Study on Selective Transvenous Embolization Using Coils and N-Butyl-2-Cyanoacrylate.
Journal of neuroendovascular therapyMulti-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.
Biochimica et biophysica acta. Molecular basis of diseaseThe chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.
Cell death discoveryPregnancy Outcome in Vascular Ehlers-Danlos Syndrome.
BJOG : an international journal of obstetrics and gynaecologyVascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.
European journal of human genetics : EJHGIdentification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers-Danlos Syndrome.
Molecular genetics & genomic medicineGenetic factors and management strategies in aortic health: a literature review of inherited aortopathy.
Annals of medicine and surgery (2012)Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.
BJOG : an international journal of obstetrics and gynaecologySmall bowel perforation caused by a fish bone in a patient with vascular Ehlers-Danlos syndrome: a case report.
Journal of surgical case reportsRecurrent perforation of an implantable cardioverter-defibrillator lead in a patient with vascular Ehlers-Danlos syndrome.
HeartRhythm case reportsThe Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms.
Current issues in molecular biologyShort-term pulse pressure variability: a novel prognostic marker and therapeutic target in patients with vascular Ehlers-Danlos syndrome? Preliminary results from a pilot study.
Hypertension research : official journal of the Japanese Society of HypertensionEfficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos Syndrome.
CirculationHemorrhagic Infarct as a Rare Presentation of Vascular Ehlers-Danlos Syndrome in a 40-Year-Old Female: A Case Report.
CureusMap2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.
JCI insightA novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.
Forensic science, medicine, and pathologyQuality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.
Orphanet journal of rare diseasesIntegrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.
BiomedicinesVascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.
European journal of human genetics : EJHGVascular Ehlers-Danlos syndrome, a therapeutic challenge.
Medicina clinicaNavigating AML treatment in vascular Ehlers-Danlos syndrome: achieving deeper remission with oral azacitidine-a first case report.
Leukemia & lymphomaCardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination.
PloS oneComprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.
JACC. Case reportsManagement of spontaneous liver hemorrhage in vascular Ehlers Danlos syndrome: A case report.
International journal of surgery case reportsCoexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis.
European journal of case reports in internal medicineImpact of vascular Ehlers-Danlos Syndrome-associated Gly substitutions on structure, function, and mechanics using bacterial collagen.
Matrix biology : journal of the International Society for Matrix BiologyA Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome.
NMC case report journalHemoperitoneum Due to Dissection and Rupture of the Superior Mesenteric Artery in a Patient With COL3A1 Mutation.
Academic forensic pathologyEchocardiographic Assessment in Patients with Vascular Ehlers-Danlos Syndrome: Insights from an Unexplored Field.
High blood pressure & cardiovascular prevention : the official journal of the Italian Society of HypertensionExercise, Sports Participation, and Quality of Life in Young Patients with Heritable Thoracic Aortic Disease.
Medicine and science in sports and exercisePulmonary Mycobacterium avium complex infection with vascular Ehlers-Danlos syndrome: A case report.
Respiratory medicine case reportsSurviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome - A case report.
International journal of surgery case reportsFunctional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective study.
Orphanet journal of rare diseasesGenetic disorders in maternal medicine.
Best practice & research. Clinical obstetrics & gynaecologyAssociation Between Cardiac Size, Systolic Function, and Complications in Vascular Ehlers-Danlos Syndrome.
Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistesVascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report.
Acute medicine & surgeryIs Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?
International journal of molecular sciencesInternal carotid artery dissection associated with an elongated hyoid bone in a patient with vascular Ehlers-Danlos syndrome.
BMJ case reportsCurrent Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention.
Journal of clinical medicineCatastrophic CPR-Related Injuries in Vascular Ehlers-Danlos Syndrome: A Case Report and Review.
The American journal of forensic medicine and pathologySuccessful redo open thoracoabdominal aortic aneurysm surgery in a patient with vascular Ehlers-Danlos syndrome: A case report.
Journal of cardiology casesMultidisciplinary hybrid approach to management of a thoracoabdominal aneurysm in a patient with both Loeys-Dietz and vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesNovel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.
Thrombosis and haemostasisGeneration of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene.
Stem cell researchVascular Ehlers-Danlos syndrome and pregnancy: A systematic review.
BJOG : an international journal of obstetrics and gynaecologyHereditary Aortic Aneurysms and Dissections: Clinical Diagnosis and Genetic Testing.
Annals of vascular diseasesTraumatic False Passage During Nasogastric Tube Insertion and Spontaneous Small Bowel Perforation in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report.
CureusNational registry insights on genetic aortopathies and thoracic endovascular aortic interventions.
Journal of vascular surgeryCase of a 33-Year-Old Woman With Hemoptysis and Migrant Nodular Cavitary Lesions.
ChestVascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Circulation. Genomic and precision medicineCase report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.
Frontiers in medicineIliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant.
Journal of vascular surgery cases and innovative techniquesThe Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations.
Methodist DeBakey cardiovascular journalSuccessful management of splenic artery dissection after sigmoid colon perforation in vascular Ehlers-Danlos syndrome.
Surgical case reportsSpontaneous sigma perforation in patient with vascular Ehlers-Danlos syndrome.
Medicina clinicaDiameter and dissection of the abdominal aorta and the risk of distal aortic reoperation after surgery for type A aortic dissection.
International journal of cardiologyEndovascular intervention to treat spontaneous carotid-cavernous fistula in a patient with Ehlers-Danlos Syndrome with an access site anatomical variant.
BJR case reportsIliac artery aneurysm endoleak management in a patient with vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesVascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report).
Clinical case reportsGeneration of the human induced pluripotent stem cell line (IBKMOLi003-A) from PBMCs of a vascular Ehlers-Danlos syndrome (vEDS) patient carrying the heterozygous nonsense mutation c.430C > T (p.Q105*) in the COL3A1 gene.
Stem cell researchSneezing-Induced Subclavian Arterial Rupture: A Case of Vascular Ehlers-Danlos Syndrome in a Child.
CureusDiagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.
Cardiovascular intervention and therapeuticsRight Hemianopsia and Right-Limb Hypesthesia Associated With Vascular Ehlers-Danlos Syndrome and Antiphospholipid Syndrome.
Journal of clinical neurology (Seoul, Korea)Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Frontiers in geneticsFamilial hepatic rupture in vascular Ehlers-Danlos syndrome in pregnancy with atypical thromboses.
JRSM openDespite celiprolol therapy, patients with vascular Ehlers-Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center.
Vascular medicine (London, England)Prevalence and outcomes of select rare vascular conditions in females: A descriptive review.
Seminars in vascular surgeryCase Report: Hybrid approach as a Rescue Treatment in a patient with vascular Ehlers-Danlos Syndrome.
Frontiers in surgeryVascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report.
Acta neurochirurgica[A Case of Left Renal Cell Carcinoma with Renal Arteriovenous Fistula and Multiple Vascular Malformation Undergoing Nephrectomy].
Hinyokika kiyo. Acta urologica JaponicaAtrial septal defect closure is associated with improved clinical status in patients ≤ 10 kg with bronchopulmonary dysplasia.
Pulmonary circulationAnkle Skin Defects with Vascular Ehlers-Danlos Syndromes Treated by Posterior Tibial Artery Perforator Flap: A Case Report.
JBJS case connectorDeciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts.
Biochimica et biophysica acta. Molecular basis of diseaseCase report of a young male, with recurrent pneumothorax, hemoptysis and intrapulmonary cavitary lesions.
MedicineVertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.
Journal of the American Heart AssociationEvaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States.
Pediatric cardiologyOpen repair of an infected abdominal aortic aneurysm in a patient with vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesClinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.
Frontiers in geneticsAnaesthesia for caesarean birth in patients with vascular Ehlers-Danlos syndrome.
International journal of obstetric anesthesiaBowel Perforation in Vascular Ehlers-Danlos Syndrome: Case Report and Comprehensive Review.
Journal of personalized medicineGenetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.
International journal of environmental research and public healthUnusual Presentation of Vascular Ehlers Danlos Syndrome in a Pediatric Patient.
PediatricsAn Unusual Case of Ehlers-Danlos Syndrome Presenting as Proptosis.
CureusPercutaneous transjugular approach without arterial monitoring for the treatment of a direct carotid-cavernous fistula with vascular Ehlers-Danlos syndrome: illustrative case.
Journal of neurosurgery. Case lessonsA case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers-Danlos syndrome: a case report.
Surgical case reportsOperative repair of right intrathoracic subclavian artery aneurysms in patients with genetic arteriopathy.
Journal of vascular surgery cases and innovative techniquesIdentification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.
Molecular genetics & genomic medicineStroke in vascular Ehlers-Danlos syndrome.
Practical neurologyCase report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age.
Frontiers in cardiovascular medicineImprovement in Quality of Life Following Celiprolol Hydrochloride Administration in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report.
Annals of vascular diseases[Pneumothorax as an early indication for a genetic disorder].
Nederlands tijdschrift voor geneeskundeEmergency vascular surgical care in populations with unique physiologic characteristics: Pediatric, pregnant, and frail populations.
Seminars in vascular surgeryOutcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease.
JAMA surgeryEndovascular repair of a common iliac artery aneurysm with an iliac branch device in a patient with vascular Ehlers-Danlos syndrome due to a null COL3A1 variant.
Journal of vascular surgery cases and innovative techniquesOpen repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesCarotid-Cavernous Fistula Treatment in Vascular Ehlers-Danlos Syndrome: A Case Report and Review of Management.
StrokeGenetics of spontaneous cervical and coronary artery dissections.
Frontiers in global women's healthFatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.
Orphanet journal of rare diseasesPostmortem Identification of Vascular Ehlers-Danlos Syndrome in a Lung Transplant Recipient.
Transplantation directImages in Vascular Medicine: Vascular complications in a young patient with vascular Ehlers-Danlos syndrome.
Vascular medicine (London, England)Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics.
Acta biomaterialiaRepeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene.
Surgical case reportsLong-term durability of valve-sparing root replacement in patients with and without connective tissue disease.
The Journal of thoracic and cardiovascular surgeryIatrogenic distal aortic rupture in a patient with vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesA novel COL3A1 variant associated with vascular Ehlers-Danlos syndrome in a patient presents as recurrent pneumothorax with cavities.
QJM : monthly journal of the Association of PhysiciansSplenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.
Journal of vascular surgeryUncommon association between vascular Ehlers-Danlos syndrome and ocular complications.
Frontiers in medicineAssociation Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Journal of the American Heart AssociationCase report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome.
Frontiers in geneticsDiagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.
European journal of human genetics : EJHGA case of popliteal artery rupture in an 11-year-old patient with vascular Ehlers-Danlos syndrome.
Journal of vascular surgery cases and innovative techniquesDiagnosing rare diseases and mental well-being: a family's story.
Orphanet journal of rare diseasesDisappearing multiple visceral aneurysms in Vascular Ehlers-Danlos syndrome.
VascularFeatures of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes.
Circulation. Genomic and precision medicineUse of the Levonorgestrel Intrauterine Device in an Adolescent with Type IV Vascular Ehlers-Danlos Syndrome and Heavy Menstrual Bleeding, a Case Report.
Journal of pediatric and adolescent gynecologyDermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.
Journal of the American Academy of DermatologySpontaneous intrapulmonary haemorrhage in vascular Ehlers-Danlos syndrome.
ThoraxManagement of Hemorrhage During Cesarean Delivery in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report.
A&A practiceVascular Involvements Are Common in the Branch Arteries of the Abdominal Aorta Rather Than in the Aorta in Vascular Ehlers-Danlos Syndrome.
CJC openNine Successful Pregnancy Outcomes in a Woman With Vascular Ehlers-Danlos Syndrome: A Case Report and Literature Review.
WMJ : official publication of the State Medical Society of WisconsinManagement of Patients with Vascular Ehlers-Danlos Syndrome and Acute Coronary Syndrome: a Case Report.
ARYA atherosclerosisEducation and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study.
PloS oneThe dysmorphic phenotype in vascular Ehlers Danlos syndrome.
Clinical dysmorphologyUnusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges.
World journal of clinical casesCase report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and COL3A1 duplication mutation without alteration in the [Gly-X-Y] repeat sequence.
Frontiers in geneticsNeuroendovascular Procedures in Patients with Ehlers-Danlos Type IV: Multicenter Case Series and Systematic Review.
World neurosurgeryDifferential Diagnosis of Multiple Systemic Aneurysms.
CureusClinically Suspected Exercise-Induced Myocarditis in a Patient With Vascular Ehlers-Danlos Syndrome.
CureusRetrograde Type A Aortic Dissection 48 Hours after TEVAR in a Patient with a Delayed Diagnosis of Vascular Ehlers-Danlos Syndrome.
Aorta (Stamford, Conn.)Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.
Frontiers in cardiovascular medicineIschemic dual papillary muscle rupture in a postpartum patient with vascular Ehlers-Danlos syndrome.
JTCVS techniquesAssessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.
Frontiers in cardiovascular medicineComprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
American journal of medical genetics. Part ACase report: Spontaneous coronary artery dissection in a man with Ehlers-Danlos syndrome.
Frontiers in cardiovascular medicineVascular Ehlers-Danlos syndrome.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyCardiovascular manifestations of type IV Ehlers-Danlos syndrome - A case report.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyVascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.
Croatian medical journalComparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.
Journal of the American College of CardiologyManagement of spontaneous dissection and rupture of common iliac artery in vascular Ehlers-Danlos syndrome (VEDS).
Journal of vascular surgery cases and innovative techniquesEvaluating perinatal and neonatal outcomes among children with vascular Ehlers-Danlos syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsAmniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK.
European journal of medical geneticsPhenotype of COL3A1/COL5A2 deletion patients.
European journal of medical geneticsSpontaneous Coronary Artery Dissection and Papillary Muscle Rupture in Patient With Undiagnosed Vascular Ehler-Danlos Syndrome.
JACC. Case reportsExtended Aortic Repair for Acute Type A Aortic Dissection with Rupture and Malperfusion Complicated with Ehlers-Danlos Syndrome.
Annals of vascular diseasesSurveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).
European journal of medical geneticsSevere clinical manifestations in an extremely low birthweight preterm baby with vascular Ehlers-Danlos syndrome.
The Journal of dermatologyCarriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.
Clinical geneticsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.
- Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G>T in the COL3A1 gene.
- Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.
- Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.
- Vascular Ehlers-Danlos syndrome with ruptured thoracic aortic aneurysm complicated by vascular graft and endograft infection and aortobronchial fistula.
- A safe seal: controlled flow arrest with dual balloon protection for embolisation of a large spontaneous splenic arteriovenous fistula-a case report.
- Spectrum of Respiratory Involvement in Ehlers-Danlos Syndrome: Insights From a Case Report.
- Returning to Exercise After Valsalva-Induced Carotid Artery Dissection.
- Spontaneous pneumothorax-associated with genetic disorders.
- What Every Vascular Surgeon Should Know About Vascular Ehlers-Danlos Syndrome.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:286(Orphanet)
- MONDO:0017314(MONDO)
- GARD:2082(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3508605(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
