Year: 2025
Type: article
Study design: Case Report
Abstract: Objectives To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may be caused by pathogenic variants (PVs) in heterozygosis in the COL3A1 gene. Case presentation We present the case of a man who suffered a cerebrovascular accident. Following investigations, a de novo probably-pathogenic variant was identified in the COL3A1 gene, which directed initial suspicion from Marfan syndrome to a final diagnosis of VEDS. Conclusions The variant detected in the COL3A1 gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.
Authors: Estrella Gutiérrez Romero, Nuria Padilla Apuntate, Silvia Izquierdo Álvarez
Institution: Hospital Universitario Miguel Servet
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W7106549219