Recurrent perforation of an implantable cardioverter-defibrillator lead in a patient with vascular Ehlers-Danlos syndrome
Vascular Ehlers-Danlos Syndrome (vEDS) is a rare genetic connective tissue disorder with an estimated prevalence of 1:100,000 to 1:200,000.1 It is caused by heterozygous pathogenic variants of the COL3A1 gene encoding type III collagen. vEDS is phenotypically characterized by thin, translucent, and easily bruised skin and fragile blood vessels and organs, leading to arterial dissections or ruptures, spontaneous gastrointestinal perforations, and urogenital perforations, notably including uterine rupture during pregnancy or childbirth.
Authors
- Gretchen MacCarrick (ORCID: https://orcid.org/0000-0003-4286-0693)
- Andreas S. Barth (ORCID: https://orcid.org/0000-0001-5275-8049)
- Harry C. Dietz (ORCID: https://orcid.org/0000-0002-6856-0165)
- Steven Liskov (ORCID: https://orcid.org/0000-0001-8831-8598)
- Kyuna Lee
- Neal K. Lakdawala
Institutions
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Johns Hopkins University (US)
- Johns Hopkins Medicine (US)
Publication Details
- Journal
- HeartRhythm Case Reports
- Published
- 2024-10-18
- DOI
- https://doi.org/10.1016/j.hrcr.2024.10.015
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00