Neurovascular abnormalities in patients with Loeys-Dietz syndrome type III

Silvy Dekker a, Carlijn G.E. Thijssen a, Denise vd Linde a, Ingrid M.B.H. vd Laar b, Jasper J. Saris b, Adriaan C.G.M. van Es c, Pieter-Jan van Doormaal c, Paul van Bronswijk a, Fop van Kooten d, Jolien W. Roos-Hesselink a,*

a Department of Congenital Cardiology, Erasmus MC, Rotterdam, the Netherlands
b Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands
c Department of Radiology, Erasmus MC, Rotterdam, the Netherlands d Department of Neurology, Erasmus MC, Rotterdam, the Netherlands 

Overview

Over a ten-year period, researchers in the Netherlands studied 26 adults with Loeys-Dietz syndrome type 3 (LDS-3) to determine how many of them experienced neurovascular abnormalities like aneurysms, arterial tortuosity (abnormal twisting of the arteries), arterial coiling, and arterial kinking and how these events impacted their health. 84.6% of individuals studied using neurovascular imaging showed some form of neurovascular abnormality, though only two individuals experienced significant issues during the study period.

Based on their findings, the study team recommended that all individuals with LDS-3 receive neurovascular screening (CTA scan of the head and neck arteries) and follow-up. Additional research is needed to learn more about how these neurovascular abnormalities progress over time and impact individuals with LDS-3.

European Journal of Medical Genetics 65 (2022) 104424

Received 23 September 2021; Received in revised form 31 December 2021; Accepted 8 January 2022 
Available online 11 January 2022

ResearchGretchen MacCarrickNeurovascular abnormalities, Neurovascular, Cranial aneurysm, SMAD3 mutation, Aorta, Aortic Aneurysm, Aorta aneurysms osteoarthritis syndrome