Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients

LP/P variants in 23 TAD genes, 12.5% diagnostic yield, per-gene genotype-phenotype correlations

This study evaluates the diagnostic yield of a 23-gene TAD panel in 368 European patients with thoracic aortic dissection, identifying likely/pathogenic variants in 12.5% of cases, primarily in FBN1 (n=13), ACTA2 (n=8), COL3A1 (n=6), and TGFBR1 (n=5). Significant genotype-phenotype correlations are established for each gene, with quantified penetrance and identification of VUS associated with severe presentations. This cohort is among the largest published for TAD in Europe.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

With 368 patients, this cohort provides actionable penetrance data for cardiovascular genetics consultation. The 12.5% yield — consistent with Nordic data — underlines the need for systematic genetic screening in dissection cases, particularly before age 55 or in the absence of classic cardiovascular risk factors.

Clinical impact: 2/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 8/10