175 Aortopathy-causing mutations increase aortic stiffness in healthy individuals

Introduction

As gene sequencing becomes more widespread, the clinical implications of incidental findings in patients’ genomes are becoming more complex. We identified healthy volunteers with mutations known to cause penetrant, Mendelian aortic disease, and examined the association of these mutations with aortic pulse wave velocity (PWV); a key marker of cardiovascular risk and aortic elastic function.

Methods

We recruited 476...