Raras
Buscar doenças, sintomas, genes...
Síndrome Ehlers-Danlos vascular
ORPHA:286CID-10 · Q79.6CID-11 · LD28.1YDOENÇA RARA

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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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.

Pesquisas ativas
6 ensaios
15 total registrados no ClinicalTrials.gov
Publicações científicas
467 artigos
Último publicado: 2026 Apr 16
Medicamentos
1 registrados
IRBESARTAN

Tem tratamento?

1 medicamento registrado
Ver detalhes, fases e interações →
IRBESARTAN

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
1.0
Worldwide
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PR, SC, RS, ES +10CID-10: Q79.6
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
13 sintomas
🧬
Pele e cabelo
13 sintomas
🫁
Pulmão
10 sintomas
❤️
Coração
10 sintomas
😀
Face
9 sintomas
👁️
Olhos
7 sintomas

+ 44 sintomas em outras categorias

Características mais comuns

90%prev.
Aplasia/Hipoplasia da sobrancelha
Muito frequente (99-80%)
90%prev.
Morfologia anormal do cílio
Muito frequente (99-80%)
90%prev.
Anormalidade da pele
Muito frequente (99-80%)
90%prev.
Atraso global do desenvolvimento
Muito frequente (99-80%)
90%prev.
Fístula arteriovenosa periférica
Muito frequente (99-80%)
90%prev.
Divertículo de bexiga
Muito frequente (99-80%)
128sintomas
Muito frequente (35)
Frequente (12)
Ocasional (48)
Sem dados (33)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 128 características clínicas mais associadas, ordenadas por frequência.

Aplasia/Hipoplasia da sobrancelhaAplasia/Hypoplasia of the eyebrow
Muito frequente (99-80%)90%
Morfologia anormal do cílioAbnormal eyelash morphology
Muito frequente (99-80%)90%
Anormalidade da peleAbnormality of the skin
Muito frequente (99-80%)90%
Atraso global do desenvolvimentoGlobal developmental delay
Muito frequente (99-80%)90%
Fístula arteriovenosa periféricaPeripheral arteriovenous fistula
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico467PubMed
Últimos 10 anos200publicações
Pico202562 papers
Linha do tempo
2026Hoje · 2026🧪 1997Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

COL3A1Collagen alpha-1(III) chainDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Secreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (10)
Integrin cell surface interactionsMET activates PTK2 signalingDevelopmental Lineage of Pancreatic Ductal CellsAssembly of collagen fibrils and other multimeric structuresSignaling by PDGF
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (6)
polymicrogyria with or without vascular-type Ehlers-Danlos syndromeautosomal dominant Ehlers-Danlos syndrome, vascular typeintracranial berry aneurysmfamilial abdominal aortic aneurysm
HGNC:2201UniProt:P02461

Medicamentos e terapias

IRBESARTANPhase 3

Mecanismo: Type-1 angiotensin II receptor antagonist

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

1,312 variantes patogênicas registradas no ClinVar.

🧬 COL3A1: NM_000090.4(COL3A1):c.528+2T>G ()
🧬 COL3A1: NM_000090.4(COL3A1):c.833del (p.Thr278fs) ()
🧬 COL3A1: NM_000090.4(COL3A1):c.2591G>T (p.Gly864Val) ()
🧬 COL3A1: NM_000090.4(COL3A1):c.2420G>A (p.Gly807Glu) ()
🧬 COL3A1: NM_000090.4(COL3A1):c.2050G>A (p.Gly684Arg) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
Aprovado1
3Fase 34
·Pré-clínico11
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 15 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

15 ensaios clínicos encontrados, 6 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

🥇Melhor nível de evidência: Meta-análise
Timeline de publicações
376 papers (10 anos)
#1

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

European journal of human genetics : EJHG2026 Mar 17

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.

#2

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.

Stem cell research2026 Apr

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.

#3

Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.

Orphanet journal of rare diseases2026 Mar 23
#4

Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.

Oral diseases2026 Mar 16

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.

#5

Vascular 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 techniques2026 Jun

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

Ver todas no PubMed

📚 EuropePMC324 artigos no totalmostrando 197

2026

Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.

Orphanet journal of rare diseases
2026

Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.

European journal of human genetics : EJHG
2026

Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.

Oral diseases
2026

Vascular 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 techniques
2026

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.

Stem cell research
2026

Contemporary Outcomes of Thoracic Endovascular Aortic Repair in Patients with Syndromic Genetic Aortopathy: A Multi-Centre National Study.

Annals of vascular surgery
2026

Sex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome.

Journal of vascular surgery
2026

Spontaneous celiac artery dissection revealing vascular Ehlers-Danlos syndrome.

The American journal of medicine
2026

[Open Thoracoabdominal Aortic Replacement for Midaortic Syndrome and COL3A1 Variant].

Zentralblatt fur Chirurgie
2026

Pulmonary Vascular Abnormalities and Spontaneous Pneumothorax in Loeys-Dietz Syndrome.

Pathology international
2025

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome.

Advances in laboratory medicine
2025

Chest Imaging Findings and Tissue Biopsy Experience in a Patient with Type IV Ehlers-Danlos Syndrome: A Case Report.

Journal of the Korean Society of Radiology
2025

Challenges in the Management of Patients with Vascular Ehlers-Danlos Syndrome: Lessons from three Clinical Cases.

European journal of case reports in internal medicine
2025

Underlying Aortopathies in Pregnancy: Early Detection, Management, and Advanced Planning.

Cardiology in review
2026

Aortic Tissue Proteome Alterations in Vascular Ehlers-Danlos Syndrome.

Journal of proteome research
2025

Hybrid prosthesis in frozen elephant trunk procedures for hereditary thoracic aortic diseases: a 14-year single-aortic center experience.

Journal of cardiothoracic surgery
2025

Pulmonary vascular Ehlers-Danlos syndrome with hemoptysis as the main manifestation: CT and histologic findings of lung parenchymal damage.

Orphanet journal of rare diseases
2026

Multimodality Imaging for Thoracic Aortic Aneurysms.

Cardiology clinics
2025

Aggressive clinical course of vascular Ehlers-Danlos syndrome with a novel COL3A1 variant.

BMJ case reports
2025

Postpartum Presentation of a Variant of Uncertain Significance in COL3A1: A Case Report.

American journal of perinatology
2025

Percutaneous transhepatic coil embolisation of a common hepatic artery aneurysm in vascular Ehlers-Danlos syndrome.

CVIR endovascular
2025

Intramuscular 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 sciences
2025

Caution Remains Warranted in Pregnancy With Vascular Ehlers-Danlos Syndrome.

BJOG : an international journal of obstetrics and gynaecology
2025

A 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 reports
2025

Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome.

JACC. Case reports
2025

[Vascular Ehlers-Danlos syndrome discovered after splenic aneurysm rupture: a case report].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2025

Conservative Management of Massive Retroperitoneal Hemorrhage in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report.

Vascular specialist international
2026

A 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 Obstetrics
2025

Case Report: A rare presentation of vascular Ehlers-Danlos syndrome with a massive hemothorax and a chest wall hematoma.

Frontiers in medicine
2025

Exploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.

Scientific reports
2025

Fragility in Focus: Gallbladder Rupture in a Patient With Vascular Ehlers-Danlos Syndrome.

ANZ journal of surgery
2025

Outcomes of fenestrated-branched endovascular aortic repair of thoracoabdominal aortic aneurysms in patients with heritable thoracic aortic diseases.

JTCVS techniques
2025

Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report.

European journal of medical genetics
2025

[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 diseases
2024

Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective.

Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
2025

Severely Kinked Ascending Aorta Prosthetic Graft Causing Thromboembolism.

JACC. Case reports
2025

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.

Frontiers in cell and developmental biology
2025

Pediatric pulmonary hemorrhage observed in non-vascular and vascular Ehlers-Danlos syndrome.

Orphanet journal of rare diseases
2025

Early diagnosis of vascular Ehlers-Danlos syndrome through AI-powered facial analysis: Results from the Montalcino Aortic Consortium.

Genetics in medicine open
2025

The Impact of Celiprolol in Vascular Ehlers-Danlos Syndrome: A Systematic Review of Current Evidence.

Medical sciences (Basel, Switzerland)
2025

Procedural decisions in the context of vascular substrate vulnerability: Lessons from vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2025

Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndromes: Moving Closer to Personalized Surveillance Imaging.

Journal of the American College of Cardiology
2025

Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.

Journal of the American College of Cardiology
2025

Defective Mitochondrial Respiration in Hereditary Thoracic Aneurysms.

Cells
2025

Arteriovenous fistula following radial artery cannulation in a patient with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2025

Cerebral air embolism in vascular Ehlers-Danlos syndrome: a retrospective diagnosis.

Practical neurology
2025

The aortic and arterial vulnerability spectrum: A conceptual biological framework for risk stratification and precision surgical decision-making in aortopathy and arteriopathy.

Journal of vascular surgery
2025

Lack of overt bleeding or platelet dysfunction in a mouse model of vascular Ehlers-Danlos syndrome.

Journal of thrombosis and haemostasis : JTH
2025

Hematomas after coughing: a case description of vascular Ehlers-Danlos syndrome.

Quantitative imaging in medicine and surgery
2025

Vascular Ehlers-Danlos syndrome: a heritable condition with potentially fatal consequences.

The Lancet. Rheumatology
2025

Management 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 therapy
2025

Multi-OMICs analysis on tridimensional fibroblast spheroids to model vascular Ehlers-Danlos syndrome pathogenesis.

Biochimica et biophysica acta. Molecular basis of disease
2025

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.

Cell death discovery
2026

Pregnancy Outcome in Vascular Ehlers-Danlos Syndrome.

BJOG : an international journal of obstetrics and gynaecology
2025

Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.

European journal of human genetics : EJHG
2025

Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers-Danlos Syndrome.

Molecular genetics &amp; genomic medicine
2025

Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.

Annals of medicine and surgery (2012)
2026

Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.

BJOG : an international journal of obstetrics and gynaecology
2025

Small bowel perforation caused by a fish bone in a patient with vascular Ehlers-Danlos syndrome: a case report.

Journal of surgical case reports
2025

Recurrent perforation of an implantable cardioverter-defibrillator lead in a patient with vascular Ehlers-Danlos syndrome.

HeartRhythm case reports
2025

The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms.

Current issues in molecular biology
2025

Short-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 Hypertension
2025

Efficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos Syndrome.

Circulation
2025

Hemorrhagic Infarct as a Rare Presentation of Vascular Ehlers-Danlos Syndrome in a 40-Year-Old Female: A Case Report.

Cureus
2025

Map2k6 is a potent genetic modifier of arterial rupture in vascular Ehlers-Danlos syndrome mice.

JCI insight
2025

A novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.

Forensic science, medicine, and pathology
2025

Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.

Orphanet journal of rare diseases
2024

Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

Biomedicines
2025

Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.

European journal of human genetics : EJHG
2025

Vascular Ehlers-Danlos syndrome, a therapeutic challenge.

Medicina clinica
2025

Navigating AML treatment in vascular Ehlers-Danlos syndrome: achieving deeper remission with oral azacitidine-a first case report.

Leukemia &amp; lymphoma
2024

Cardiovascular complications in vascular connective tissue disorders after COVID-19 infection and vaccination.

PloS one
2024

Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.

JACC. Case reports
2025

Management of spontaneous liver hemorrhage in vascular Ehlers Danlos syndrome: A case report.

International journal of surgery case reports
2024

Coexistence 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 medicine
2025

Impact 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 Biology
2024

A Case of Spontaneous Carotid-cavernous Fistula in a Patient with Vascular Ehlers-Danlos Syndrome.

NMC case report journal
2024

Hemoperitoneum Due to Dissection and Rupture of the Superior Mesenteric Artery in a Patient With COL3A1 Mutation.

Academic forensic pathology
2025

Echocardiographic Assessment in Patients with Vascular Ehlers-Danlos Syndrome: Insights from an Unexplored Field.

High blood pressure &amp; cardiovascular prevention : the official journal of the Italian Society of Hypertension
2025

Exercise, Sports Participation, and Quality of Life in Young Patients with Heritable Thoracic Aortic Disease.

Medicine and science in sports and exercise
2024

Pulmonary Mycobacterium avium complex infection with vascular Ehlers-Danlos syndrome: A case report.

Respiratory medicine case reports
2024

Surviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome - A case report.

International journal of surgery case reports
2024

Functional benefit of joint surgery in patients with non-vascular Ehlers-Danlos syndrome: results of a retrospective study.

Orphanet journal of rare diseases
2024

Genetic disorders in maternal medicine.

Best practice &amp; research. Clinical obstetrics &amp; gynaecology
2025

Association Between Cardiac Size, Systolic Function, and Complications in Vascular Ehlers-Danlos Syndrome.

Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes
2024

Vascular type Ehlers-Danlos syndrome with intra-abdominal hemorrhage due to ruptured hepatic aneurysm: A case report.

Acute medicine &amp; surgery
2024

Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?

International journal of molecular sciences
2024

Internal carotid artery dissection associated with an elongated hyoid bone in a patient with vascular Ehlers-Danlos syndrome.

BMJ case reports
2024

Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention.

Journal of clinical medicine
2024

Catastrophic CPR-Related Injuries in Vascular Ehlers-Danlos Syndrome: A Case Report and Review.

The American journal of forensic medicine and pathology
2024

Successful redo open thoracoabdominal aortic aneurysm surgery in a patient with vascular Ehlers-Danlos syndrome: A case report.

Journal of cardiology cases
2024

Multidisciplinary 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 techniques
2025

Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.

Thrombosis and haemostasis
2024

Generation of two iPSC lines from vascular Ehlers-Danlos Syndrome (vEDS) patients carrying a missense mutation in COL3A1 gene.

Stem cell research
2024

Vascular Ehlers-Danlos syndrome and pregnancy: A systematic review.

BJOG : an international journal of obstetrics and gynaecology
2024

Hereditary Aortic Aneurysms and Dissections: Clinical Diagnosis and Genetic Testing.

Annals of vascular diseases
2024

Traumatic False Passage During Nasogastric Tube Insertion and Spontaneous Small Bowel Perforation in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report.

Cureus
2024

National registry insights on genetic aortopathies and thoracic endovascular aortic interventions.

Journal of vascular surgery
2024

Case of a 33-Year-Old Woman With Hemoptysis and Migrant Nodular Cavitary Lesions.

Chest
2024

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

Circulation. Genomic and precision medicine
2024

Case report: A novel COL3A1 variant in a Colombian patient with isolated cerebrovascular involvement in vascular Ehlers-Danlos syndrome.

Frontiers in medicine
2024

Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant.

Journal of vascular surgery cases and innovative techniques
2024

The Impact of Pregnancy in Patients with Thoracic Aortic Disease: Epidemiology, Risk Assessment, and Management Considerations.

Methodist DeBakey cardiovascular journal
2024

Successful management of splenic artery dissection after sigmoid colon perforation in vascular Ehlers-Danlos syndrome.

Surgical case reports
2024

Spontaneous sigma perforation in patient with vascular Ehlers-Danlos syndrome.

Medicina clinica
2024

Diameter and dissection of the abdominal aorta and the risk of distal aortic reoperation after surgery for type A aortic dissection.

International journal of cardiology
2024

Endovascular intervention to treat spontaneous carotid-cavernous fistula in a patient with Ehlers-Danlos Syndrome with an access site anatomical variant.

BJR case reports
2024

Iliac artery aneurysm endoleak management in a patient with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2024

Vascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report).

Clinical case reports
2024

Generation 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 research
2023

Sneezing-Induced Subclavian Arterial Rupture: A Case of Vascular Ehlers-Danlos Syndrome in a Child.

Cureus
2024

Diagnosis and treatment of cardiovascular disease in patients with heritable connective tissue disorders or heritable thoracic aortic diseases.

Cardiovascular intervention and therapeutics
2024

Right Hemianopsia and Right-Limb Hypesthesia Associated With Vascular Ehlers-Danlos Syndrome and Antiphospholipid Syndrome.

Journal of clinical neurology (Seoul, Korea)
2023

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.

Frontiers in genetics
2023

Familial hepatic rupture in vascular Ehlers-Danlos syndrome in pregnancy with atypical thromboses.

JRSM open
2024

Despite 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)
2023

Prevalence and outcomes of select rare vascular conditions in females: A descriptive review.

Seminars in vascular surgery
2023

Case Report: Hybrid approach as a Rescue Treatment in a patient with vascular Ehlers-Danlos Syndrome.

Frontiers in surgery
2023

Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report.

Acta neurochirurgica
2023

[A Case of Left Renal Cell Carcinoma with Renal Arteriovenous Fistula and Multiple Vascular Malformation Undergoing Nephrectomy].

Hinyokika kiyo. Acta urologica Japonica
2023

Atrial septal defect closure is associated with improved clinical status in patients ≤ 10 kg with bronchopulmonary dysplasia.

Pulmonary circulation
2023

Ankle Skin Defects with Vascular Ehlers-Danlos Syndromes Treated by Posterior Tibial Artery Perforator Flap: A Case Report.

JBJS case connector
2024

Deciphering 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 disease
2023

Case report of a young male, with recurrent pneumothorax, hemoptysis and intrapulmonary cavitary lesions.

Medicine
2023

Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome.

Journal of the American Heart Association
2024

Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States.

Pediatric cardiology
2023

Open repair of an infected abdominal aortic aneurysm in a patient with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2023

Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.

Frontiers in genetics
2023

Anaesthesia for caesarean birth in patients with vascular Ehlers-Danlos syndrome.

International journal of obstetric anesthesia
2023

Bowel Perforation in Vascular Ehlers-Danlos Syndrome: Case Report and Comprehensive Review.

Journal of personalized medicine
2023

Genetic 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 health
2023

Unusual Presentation of Vascular Ehlers Danlos Syndrome in a Pediatric Patient.

Pediatrics
2023

An Unusual Case of Ehlers-Danlos Syndrome Presenting as Proptosis.

Cureus
2023

Percutaneous 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 lessons
2023

A case of sigmoid colon perforation due to segmental absence of intestinal musculature (SAIM) accompanied by vascular Ehlers-Danlos syndrome: a case report.

Surgical case reports
2023

Operative repair of right intrathoracic subclavian artery aneurysms in patients with genetic arteriopathy.

Journal of vascular surgery cases and innovative techniques
2023

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.

Molecular genetics &amp; genomic medicine
2023

Stroke in vascular Ehlers-Danlos syndrome.

Practical neurology
2023

Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age.

Frontiers in cardiovascular medicine
2023

Improvement in Quality of Life Following Celiprolol Hydrochloride Administration in a Patient with Vascular Ehlers-Danlos Syndrome: A Case Report.

Annals of vascular diseases
2023

[Pneumothorax as an early indication for a genetic disorder].

Nederlands tijdschrift voor geneeskunde
2023

Emergency vascular surgical care in populations with unique physiologic characteristics: Pediatric, pregnant, and frail populations.

Seminars in vascular surgery
2023

Outcomes After Endovascular Aortic Intervention in Patients With Connective Tissue Disease.

JAMA surgery
2023

Endovascular 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 techniques
2023

Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2023

Carotid-Cavernous Fistula Treatment in Vascular Ehlers-Danlos Syndrome: A Case Report and Review of Management.

Stroke
2023

Genetics of spontaneous cervical and coronary artery dissections.

Frontiers in global women's health
2023

Fatigue 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 diseases
2023

Postmortem Identification of Vascular Ehlers-Danlos Syndrome in a Lung Transplant Recipient.

Transplantation direct
2023

Images in Vascular Medicine: Vascular complications in a young patient with vascular Ehlers-Danlos syndrome.

Vascular medicine (London, England)
2023

Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics.

Acta biomaterialia
2023

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene.

Surgical case reports
2024

Long-term durability of valve-sparing root replacement in patients with and without connective tissue disease.

The Journal of thoracic and cardiovascular surgery
2023

Iatrogenic distal aortic rupture in a patient with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2023

A 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 Physicians
2023

Splenic artery pathology presentation, operative interventions, and outcomes in 88 patients with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery
2023

Uncommon association between vascular Ehlers-Danlos syndrome and ocular complications.

Frontiers in medicine
2023

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal of the American Heart Association
2023

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome.

Frontiers in genetics
2023

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield.

European journal of human genetics : EJHG
2023

A case of popliteal artery rupture in an 11-year-old patient with vascular Ehlers-Danlos syndrome.

Journal of vascular surgery cases and innovative techniques
2023

Diagnosing rare diseases and mental well-being: a family's story.

Orphanet journal of rare diseases
2024

Disappearing multiple visceral aneurysms in Vascular Ehlers-Danlos syndrome.

Vascular
2023

Features of Vascular Ehlers-Danlos Syndrome Among Biobank Participants Harboring Predicted High-Risk COL3A1 Genotypes.

Circulation. Genomic and precision medicine
2023

Use 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 gynecology
2023

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

Journal of the American Academy of Dermatology
2023

Spontaneous intrapulmonary haemorrhage in vascular Ehlers-Danlos syndrome.

Thorax
2023

Management of Hemorrhage During Cesarean Delivery in a Patient With Vascular Ehlers-Danlos Syndrome: A Case Report.

A&amp;A practice
2023

Vascular Involvements Are Common in the Branch Arteries of the Abdominal Aorta Rather Than in the Aorta in Vascular Ehlers-Danlos Syndrome.

CJC open
2022

Nine 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 Wisconsin
2023

Management of Patients with Vascular Ehlers-Danlos Syndrome and Acute Coronary Syndrome: a Case Report.

ARYA atherosclerosis
2022

Education and employment status among adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome in Norway, a questionnaire based study.

PloS one
2023

The dysmorphic phenotype in vascular Ehlers Danlos syndrome.

Clinical dysmorphology
2022

Unusual presentation of Loeys-Dietz syndrome: A case report of clinical findings and treatment challenges.

World journal of clinical cases
2022

Case 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 genetics
2023

Neuroendovascular Procedures in Patients with Ehlers-Danlos Type IV: Multicenter Case Series and Systematic Review.

World neurosurgery
2022

Differential Diagnosis of Multiple Systemic Aneurysms.

Cureus
2022

Clinically Suspected Exercise-Induced Myocarditis in a Patient With Vascular Ehlers-Danlos Syndrome.

Cureus
2022

Retrograde Type A Aortic Dissection 48 Hours after TEVAR in a Patient with a Delayed Diagnosis of Vascular Ehlers-Danlos Syndrome.

Aorta (Stamford, Conn.)
2022

Case report: Characterization of a rare pathogenic variant associated with loss of COL3A1 expression in vascular Ehlers Danlos syndrome.

Frontiers in cardiovascular medicine
2022

Ischemic dual papillary muscle rupture in a postpartum patient with vascular Ehlers-Danlos syndrome.

JTCVS techniques
2022

Assessment of arterial damage in vascular Ehlers-Danlos syndrome: A retrospective multicentric cohort.

Frontiers in cardiovascular medicine
2023

Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.

American journal of medical genetics. Part A
2022

Case report: Spontaneous coronary artery dissection in a man with Ehlers-Danlos syndrome.

Frontiers in cardiovascular medicine
2022

Vascular 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 Cardiology
2022

Cardiovascular 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 Cardiology
2022

Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.

Croatian medical journal
2022

Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.

Journal of the American College of Cardiology
2023

Management of spontaneous dissection and rupture of common iliac artery in vascular Ehlers-Danlos syndrome (VEDS).

Journal of vascular surgery cases and innovative techniques
2022

Evaluating perinatal and neonatal outcomes among children with vascular Ehlers-Danlos syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

Amniotic band sequence in vascular Ehlers-Danlos Syndrome (EDS): Experience of the EDS National Diagnostic Services in the UK.

European journal of medical genetics
2022

Phenotype of COL3A1/COL5A2 deletion patients.

European journal of medical genetics
2022

Spontaneous Coronary Artery Dissection and Papillary Muscle Rupture in Patient With Undiagnosed Vascular Ehler-Danlos Syndrome.

JACC. Case reports
2022

Extended Aortic Repair for Acute Type A Aortic Dissection with Rupture and Malperfusion Complicated with Ehlers-Danlos Syndrome.

Annals of vascular diseases
2022

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).

European journal of medical genetics
2022

Severe clinical manifestations in an extremely low birthweight preterm baby with vascular Ehlers-Danlos syndrome.

The Journal of dermatology
2022

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Clinical genetics
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Doenças relacionadas

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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.

  1. Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.
    European journal of human genetics : EJHG· 2026· PMID 41845085mais citado
  2. Generation of an induced pluripotent stem cell and isogenic control line from a vascular Ehlers-Danlos Syndrome (vEDS) patient harboring a pathogenic c.755G&gt;T in the COL3A1 gene.
    Stem cell research· 2026· PMID 41747624mais citado
  3. Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.
    Orphanet journal of rare diseases· 2026· PMID 41872842mais citado
  4. Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study.
    Oral diseases· 2026· PMID 41840838mais citado
  5. Vascular 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 techniques· 2026· PMID 41809019mais citado
  6. A safe seal: controlled flow arrest with dual balloon protection for embolisation of a large spontaneous splenic arteriovenous fistula-a case report.
    CVIR Endovasc· 2026· PMID 41989736recente
  7. Spectrum of Respiratory Involvement in Ehlers-Danlos Syndrome: Insights From a Case Report.
    Open Respir Arch· 2026· PMID 41971414recente
  8. Returning to Exercise After Valsalva-Induced Carotid Artery Dissection.
    JACC Case Rep· 2026· PMID 41906572recente
  9. Spontaneous pneumothorax-associated with genetic disorders.
    Ther Adv Respir Dis· 2026· PMID 41905781recente
  10. What Every Vascular Surgeon Should Know About Vascular Ehlers-Danlos Syndrome.
    Ann Vasc Surg· 2026· PMID 41905459recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:286(Orphanet)
  2. MONDO:0017314(MONDO)
  3. GARD:2082(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. 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

Síndrome Ehlers-Danlos vascular
Compêndio · Raras BR

Síndrome Ehlers-Danlos vascular

ORPHA:286 · MONDO:0017314
Prevalência
1-9 / 100 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
Q79.6 · Síndrome de Ehlers-Danlos
CID-11
Ensaios
6 ativos
Medicamentos
1 registrados
Início
Infancy, Neonatal
Prevalência
1.0 (Worldwide)
MedGen
UMLS
C0268338
EuropePMC
Wikidata
Papers 10a
Evidência
🥇 Meta-análise
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