Multiple Arterial Dissections and Connective Tissue Abnormalities.

ABSTRACT:

Background

Although patients with multiple arterial dissections in distinct arterial regions rarely present with known connective tissue syndromes, we hypothesized that mild connective tissue abnormalities are common findings in these patients.

Methods

From a consecutive register of 322 patients with cervical artery dissection (CeAD), we identified and analyzed 4 patients with a history of additional dissections in other vascular beds. In three patients, dermal connective tissue was examined by electron microscopy. DNA from all four patients was studied by whole-exome sequencing and copy number variation (CNV) analysis.

Results

The collagen fibers of dermal biopsies were pathologic in all three analyzed patients. One patient carried a CNV disrupting the COL3A1

SUBMITTER: Erhart P 

PROVIDER: S-EPMC9224905 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature