Severe elastic fiber fragmentation/loss is correlated with Marfan syndrome in patients with an ascending aortic aneurysm.

CONTEXT AND

OBJECTIVES

Aortic wall degeneration was described by a consensus statement published in 2016 by the Society for Cardiovascular Pathology (SCP) and Association for European Cardiovascular Pathology (AECP). The aim of this study was to determine if histopathologic features could predict the presence of genetic syndrome, to assess the prognostic value of histological findings, and to correlate it with clinical data.

METHODS

This study included 85 patients operated in the CHRU of Nancy. When available (n=80), all histological sections were reviewed and scored following the SCP/AECP recommendations.

RESULTS

Translamellar mucoid extracellular matrix accumulation (MEMA-T) was significantly associated with MFS, only in patients<60years old (P=0.015) but did not allow to accurately predict the existence of MFS. Severe Elastic fiber fragmentation/loss (EFFL) was significantly associated with MFS (P=0.018). Using ROC analyses, we found that the optimal age threshold to predict MFS was 60years old, leading to 100% sensitivity but 51% specificity. The sensitivity and specificity of severe EFFL in order to predict MFS were 88% and 62%, respectively (88% and 65% under the age of 60years old; 100% and 57% under the age of 50years old).

CONCLUSION

In conclusion, we found a significantly more frequent severe elastic fibers fragmentation and/or loss in patients with a MFS. These patients are younger and we recommend to systematically search for a Marfan syndrome for patients under 60years old with an ascending aortic aneurysm whatever the histological data. Further studies are required to evaluate the added value of histological criteria, particularly EFFL, for the diagnosis of Marfan syndrome.