Plasma Cell-Free DNA in Acute and Chronic Aortic Syndromes.

Ruwan Alwis Weerakkody; Martyna Joanna Adamowicz; Christelle Robert; John D. Pound; Maaz B. J. Syed; Caroline Pumpe; Anwar Muhammad Bilal; Alexander Laird; Duncan B. McLaren; Orwa Falah; Andrew L. Tambyraja; Matthew James Reed; David Ernest Newby; Timothy J. Aitman

doi:10.1101/2025.01.06.631373

GenomicsbioRxivJan 6, 2025

Preprint

Plasma Cell-Free DNA in Acute and Chronic Aortic Syndromes.

Ruwan Alwis Weerakkody iD, Martyna Joanna Adamowicz iD, Christelle Robert, John D. Pound, Maaz B. J. Syed iD, Caroline Pumpe iD, Anwar Muhammad Bilal iD, Alexander Laird iD, Duncan B. McLaren iD, Orwa Falah iD, Andrew L. Tambyraja iD, Matthew James Reed iD, David Ernest Newby iD, Timothy J. Aitman iD

Abstract

Acute aortic syndromes and other acute aortic events are commonly misdiagnosed and associated with high mortality and morbidity. There is need for a blood-based biomarker to indicate the acutely unstable aorta. Plasma cell-free DNA (cfDNA) is an established diagnostic marker in prenatal testing and cancer. Its use as a potential diagnostic marker in aortic disease remains to be demonstrated. We found that plasma short-fragment (50-700bp) cfDNA concentration is significantly increased in patients with both acute and chronic aortic disease compared with several control groups, and is significantly increased in acute versus chronic aortic disease. Plasma sf-cfDNA may differentiate acute aortic syndromes from other acute presentations of chest pain with good diagnostic accuracy and could prove a significant advance in the management of aortic disease.

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