Genetic Predisposition to Aortic Aneurysm Score

Genetic Predisposition to Aortic Aneurysm Score: explanation and clinical context This prototype score combines genetic test results (presence of pathogenic/likely pathogenic variants in well-established aortic disease genes) with clinical risk features (family history, connective tissue disorder, bicuspid aortic valve, hypertension, smoking, age, and sex) to produce a single numeric value that stratifies risk into Low, Moderate, High, and Very high categories. Genes that most strongly increase the probability of thoracic aortic aneurysm and dissection (TAA/TAAD) include FBN1, ACTA2, TGFBR1, TGFBR2, SMAD3, MYH11, COL3A1 and others; these genes are frequently considered "high-penetrance" drivers and are therefore weighted heavily in the score. Polygenic / multi-locus approaches have also been applied to abdominal aortic aneurysm (AAA) and can provide incremental risk information beyond clinical factors; however, published polygenic risk scores are disease- and population-specific and require local validation before clinical use.

This tool is a clinical-prototype only — it is not a substitute for diagnostic genetic reports, formal clinical risk models, or specialist cardiothoracic/vascular assessment. Use it as an aid for triage, discussion, and planning: patients with high or very high scores should be referred for genetic counseling, targeted imaging surveillance, and specialist management where available.