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A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome

  • Sydney L. Olson
    Affiliations
    Minneapolis Heart Institute, Minneapolis, MN
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  • Mitzi L. Murray
    Affiliations
    GeneDx, Inc., Gaithersburg, MD
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  • Nedaa Skeik
    Correspondence
    Correspondence to: Nedaa Skeik, MD, FACC, FACP, FSVM, RPVI, Associate Professor of Medicine Section Head, Vascular Medicine Medical Director, Thrombophilia & Anticoagulation Clinic Medical Director, Hyperbaric Medicine Medical Director, Vascular Laboratories Minneapolis Heart Institute®, Abbott Northwestern Hospital - part of Allina Health, 920 E. 28th Street, Suite 300, Minneapolis, MN 55407, USA
    Affiliations
    Minneapolis Heart Institute, Minneapolis, MN
    Search for articles by this author
Published:August 05, 2019DOI:https://doi.org/10.1016/j.avsg.2019.05.057
      Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type EDS (vEDS) is generally considered the most severe and is associated with a decreased life expectancy due to spontaneous arterial, intestinal, and or uterine rupture. Diagnosis of vEDS is supported by genetic testing confirming the presence of pathogenic variations in COL3A1, a type III procollagen gene. Management of vEDS is usually conservative with control of hemodynamic stress, frequent cardiovascular imaging, and, if indicated, a thoughtful endovascular intervention or surgical repair. We present a novel frameshift variant in COL3A1 leading to vEDS with multiple vascular involvements. Based on our literature review, this variant has not been reported and may result in a less severe form of vEDS. Our case report provides insight into genetic variants and clinical expression of vEDS.
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