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

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 <i>LTBP3</i> variant linked to systemic aneurysms, epilepsy, and cancer. Additionally, two benign variants in the <i>FBN1</i> and <i>MYLK</i> genes, associated with thoracic aortic disease, were found. These findings emphasis the importance of genetic counseling and further research into genotype-phenotype correlations.