Why the study?
To describe a patient presenting with a phenotype resembling vascular EDS caused by a novel pathogenic variant in COL5A1.
Population
1 patient with a novel pathogenic variant in COL5A1
Design
Case report
Key result
A novel pathogenic variant in COL5A1 was identified in a patient exhibiting prominent vascular and cardiac features resembling vascular Ehlers-Danlos Syndrome.
Authors
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Single-case finding warrants diagnostic caution; leaves open whether COL5A1 variants can produce vEDS-like phenotypes pending replication.
Case Report (n=1)
A novel pathogenic variant in COL5A1 can present with a phenotype resembling vascular Ehlers-Danlos Syndrome, highlighting the potential for prominent vascular and cardiac features in classical EDS subtypes.
Lavanya et al. (2022) conducted a case report in Ehlers-Danlos Syndrome (n=1). Novel pathogenic variant in COL5A1 was evaluated on Phenotype resembling vascular EDS. A novel pathogenic variant in COL5A1 was identified in a patient exhibiting prominent vascular and cardiac features resembling vascular Ehlers-Danlos Syndrome.
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