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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Article info
Publication history
Published online: August 05, 2019
Accepted:
May 29,
2019
Received:
September 28,
2018
Footnotes
Conflict of interest: The authors declare that there is no conflict of interest or financial disclosures.
Written informed consent for patient information and images to be published was provided by the patient.
Identification
Copyright
© 2019 Elsevier Inc. All rights reserved.
