Work

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

Year: 2025

Type: article

Abstract: An aneurysm is a localized arterial dilation that can occur in various body segments, multisegmented aneurysms are rare. This report case 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.

Source: Journal of Vascular Surgery Cases and Innovative Techniques

DOI: 10.1016/j.jvscit.2025.101855

Authors: Mateus Picada Correa, Camila Biedler Giordani, Renan Camargo Puton, Jaber Nashat Saleh, Elizabeth Lemos Silveira Lucas

Institution: Universidade de Passo Fundo

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,250