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Multiple Arterial Dissections and Connective Tissue Abnormalities

Philipp Erhart1, Daniel Körfer1, Susanne Dihlmann1

  • 1Department of Vascular and Endovascular Surgery, University Hospital of Heidelberg, 69120 Heidelberg, Germany.

Journal of Clinical Medicine
|June 24, 2022
PubMed

Insights

Mild connective tissue abnormalities may be common in patients with multiple arterial dissections. Genetic testing is recommended for recurrent arterial dissections, even without obvious connective tissue disorder signs.

Area of Science:

  • Genetics
  • Vascular Biology
  • Connective Tissue Diseases

Background:

  • Multiple arterial dissections in different regions are rare in patients with known connective tissue syndromes.
  • This study investigates the hypothesis that mild connective tissue abnormalities are prevalent in such patients.

Purpose of the Study:

  • To explore the prevalence of mild connective tissue abnormalities in patients with multiple arterial dissections.
  • To identify potential genetic underpinnings of recurrent arterial dissections.

Main Methods:

  • Analysis of 4 patients with cervical artery dissection (CeAD) and dissections in other vascular beds.
  • Dermal connective tissue examination via electron microscopy.
  • Whole-exome sequencing and copy number variation (CNV) analysis of patient DNA.

Main Results:

  • Pathologic collagen fibers were observed in dermal biopsies of all three analyzed patients.
  • One patient had a CNV affecting COL3A1 and COL5A2 (Ehlers-Danlos syndrome).
  • Another patient had a CNV in MYH11 (familial thoracic aortic aneurysms and dissections); a third had a COL5A2 missense substitution.

Conclusions:

  • Morphologic alterations in dermal connective tissue were found in three patients.
  • Two patients carried pathogenic variants in genes linked to arterial connective tissue dysfunction.
  • Genetic testing is suggested for recurrent arterial dissections, irrespective of clear phenotypical connective tissue disorder signs.
Abstract

Keywords:
Ehlers–Danlos syndromeMarfan syndromecarotid arteryconnective tissue diseasedissectiongenetics

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