{
  "abstract": "Objective: To characterise territory-specific sex-associated vascular phenotypes in genetically confirmed vascular Ehlers-Danlos syndrome and assess whether associations persisted after accounting for COL3A1 molecular mechanism.\n\nMethods: In this retrospective multicentre cohort, clinical-genomics review identified 95 eligible patients from 110 source records. 18 prespecified vascular outcomes were evaluated using Firth bias-reduced logistic regression adjusted for completed age per 10-year increment. Sensitivity analyses among 75 patients with classifiable dominant-negative or haploinsufficient mechanisms additionally adjusted for molecular mechanism.\n\nResults: The cohort included 34 male and 61 female patients. Male sex was associated with ascending aortic dilation or aneurysm (adjusted OR 4.88, 95% CI 1.68 to 15.41), iliac/femoral aneurysm (4.61, 95% CI 1.79 to 12.52), extra-aortic dissection (3.93, 95% CI 1.61 to 10.24), renal dissection (10.08, 95% CI 3.08 to 42.11) and splanchnic dissection (5.84, 95% CI 2.27 to 15.90). Aortic dissection and cervical aneurysm or dissection were not associated with male sex. In the imaging-restricted unadjusted comparison, head and neck tortuosity, ectasia or dilation was present in 23/44 (52.3%) female and 7/29 (24.1%) male patients (p=0.028). In genotype sensitivity analyses, associations remained for iliac/femoral, renal and splanchnic aneurysms and for extra-aortic, renal, splanchnic and iliac dissections, whereas several broader aneurysm and intervention estimates became less precise.\n\nConclusions: Male sex was associated with a territory-specific vascular phenotype, with the most consistent genotype-adjusted associations involving renal, splanchnic, iliac/femoral and broader extra-aortic dissection territories. Surveillance should remain comprehensive rather than sex restricted.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Cardiovascular Medicine, Mayo Clinic, Phoenix, Arizona, USA",
    "Department of Clinical Genomics, Mayo Cinic, Rochester, Minnesota, USA"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Hussein Abdul Nabi"
    },
    {
      "affs": [
        0
      ],
      "name": "Luke Arnulfo Dreher",
      "orcid": "0000-0002-5144-9292"
    },
    {
      "affs": [
        0
      ],
      "name": "Vinícius de Sousa Barzon Serra",
      "orcid": "0009-0007-9518-236X"
    },
    {
      "affs": [
        0
      ],
      "name": "Sammudeen Ibrahim"
    },
    {
      "affs": [
        0
      ],
      "name": "Luis R Scott"
    },
    {
      "affs": [
        0
      ],
      "name": "Chadi Ayoub"
    },
    {
      "affs": [
        0
      ],
      "name": "Hicham Z El Masry"
    },
    {
      "affs": [
        1
      ],
      "name": "Linnea M Baudhuin"
    },
    {
      "affs": [
        0
      ],
      "name": "Fadi E Shamoun"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dgnebzv6dvhv6.bib",
  "cited_by": 0,
  "doi": "10.1136/openhrt-2026-004552",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13735252/",
  "id": "dgnebzv6dvhv6",
  "issns": [
    "2053-3624"
  ],
  "landing_url": "https://doi.org/10.1136/openhrt-2026-004552",
  "language": "en",
  "licence": "CC-BY-NC-4.0",
  "licence_label": "CC BY-NC 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "1506"
    ],
    [
      "heading",
      "Aortic and Vascular Disease"
    ],
    [
      "heading",
      "Original Research"
    ],
    [
      "openalex",
      "1311|Connective tissue disorders research"
    ]
  ],
  "openalex": "W7225111140",
  "pdf_url": "https://openheart.bmj.com/content/13/2/e004552.full.pdf",
  "pmcid": "PMC13735252",
  "pmid": "42971734",
  "published": "2026-11-02",
  "publisher": "BMJ Publishing Group",
  "ris": "https://research.draconitic.com/paper/dgnebzv6dvhv6.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:20:58Z",
      "native_id": "PMC13735252",
      "source": "pmc",
      "url": "https://doi.org/10.1136/openhrt-2026-004552"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Connective tissue disorders research",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Sex-associated territory-specific vascular phenotypes in genetically confirmed vascular Ehlers-Danlos syndrome",
  "title_text": "Sex-associated territory-specific vascular phenotypes in genetically confirmed vascular Ehlers-Danlos syndrome",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:20:58Z",
  "url": "https://research.draconitic.com/paper/dgnebzv6dvhv6",
  "venue": "Open Heart",
  "versions": []
}