ArticleCirculation. Genomic and precision medicine2024
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Article in Circulation. Genomic and precision medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 23 citations in OpenAlex.
- Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series.European journal of human genetics : EJHG · 2026Pooled it
- Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.European journal of human genetics : EJHG · 2026Article
- Recurrent Acute Coronary Syndrome in Spontaneous Coronary Artery Dissection.JACC. Case reports · 2026Article
- Late Recognition of Suspected Ehlers-Danlos Syndrome After Recurrent Small-Bowel Perforations: A Case Report.Journal of general and family medicine · 2026Article
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.Orphanet journal of rare diseases · 2026Article
- Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.BJOG : an international journal of obstetrics and gynaecology · 2026Article
- Thoracic aortic disease in young patients: from genetics to management.Frontiers in cardiovascular medicine · 2026Review
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Varied Presentations of Arterial Events in Vascular Ehlers-Danlos Syndrome.JACC. Case reports · 2025Article
- Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.European journal of human genetics : EJHG · 2025Review
- Thoracic aortic aneurysm.Nature reviews. Disease primers · 2025Review
- Hematomas after coughing: a case description of vascular Ehlers-Danlos syndrome.Quantitative imaging in medicine and surgery · 2025Article
- Modulating Collagen I Expression in Fibroblasts by CRISPR-Cas9 Base Editing of the Collagen 1A1 Promoter.International journal of molecular sciences · 2025Article
- Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.European journal of human genetics : EJHG · 2025Article
- The Novel Association of a Single Nucleotide Variant in theCurrent issues in molecular biology · 2025Article
- Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.Biomedicines · 2024Article
- Self-Perception of Physical Problems in Patients with Non-Vascular Type of Ehlers-Danlos Syndrome: A Qualitative Study.Healthcare (Basel, Switzerland) · 2024Article
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
Corrections and comments
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Authors and funding
26 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundVascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in
methodsIndividuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination.
resultsA total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (
conclusionsMale sex, type and location of the
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.