A novel frameshift COL3A1 variant in vascular Ehlers-Danlos syndrome

Ehlers-Danlos Syndromes (EDS) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type (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 vascular EDS 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.
Source: Annals of Vascular Surgery - Category: Surgery Authors: Tags: Case Report Source Type: research