Genotype/phenotype correlation in a patient with multiple abdominal and popliteal aneurysms

Abstract

An aneurysm is a localized arterial dilation that can occur in various body segments; multisegmented aneurysms are rare. This case report discusses a 55-year-old male with incidental multisegmented abdominal and popliteal aneurysms. He underwent popliteal aneurysmectomy and endovascular treatment for abdominal aneurysms. Genetic testing revealed a pathogenic LTBP3 variant linked to systemic aneurysms, epilepsy, and cancer. Additionally, two benign variants in the FBN1 and MYLK genes, associated with thoracic aortic disease, were found. These findings emphasis the importance of genetic counseling and further research into genotype-phenotype correlations.