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Acute Stanford type B aortic dissection-who benefits from genetic testing?


ABSTRACT:

Background

Stanford type B aortic dissection is a rare, life-threatening complex phenotype associated with several modifiable and genetic risk factors. In the current study of a hospital-based, consecutive series of aortic dissection patients we propose a selection based on age and family history of aortic disease for genetic testing and detection of causative gene variants.

Methods

In this single center cohort study from 2013 to 2018 patients with acute Stanford type B aortic dissections were consecutively treated and analyzed by next generation sequencing based on selection criteria (age of disease onset ≤45 years and/or positive familial history for aortic disease) to detect genome-wide pathogenic variants in protein-coding sequences and to identify large copy number vari

SUBMITTER: Erhart P 

PROVIDER: S-EPMC7711383 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature