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AORTIC DISEASE

Clinical utility of genomic analyses and polygenic risk scores for aortic diseases

Nature Cardiovascular Research volume 1, pages 542–543 (2022)Cite this article

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Rupture or dissection of the aorta is often fatal. Tcheandjieu and colleagues now identify key pathways underlying aortic dilatation, a common prelude to acute aortic events, and assess the utility of a polygenic risk score to identify those at highest risk of aortic death in whom prophylactic surgical repair may be beneficial.

Acute aortic syndromes such as type A dissection and aneurysm rupture are a common cause of sudden death. Usually, there are no preceding symptoms before an acute event. Emergency surgery to treat these conditions is associated with an extremely high peri-operative mortality and significant long-term morbidity in survivors. Surgery can be performed to prevent acute events, but prophylactic aortic repair remains associated with substantial risks and is thus only performed on individuals with a high risk of aortic rupture or dissection. The principal problem facing clinicians is the identification of individuals in whom the surgical risks of pre-emptive repair to prevent future aortic rupture or dissection are justified. Current methods to quantify the future risk of aortic events are extremely limited. Aortic diameter is most commonly used but lacks precision at the individual and population levels. In the case of aortic dissection, the relationship between aortic diameter and the risk of dissection is unclear. Family history and risk factors such as smoking and hypertension are often insufficient to explain incident pathology1.

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Authors and Affiliations

  1. Department of Cardiovascular Sciences and NIHR Leicester Biomedical Research Centre, University of Leicester, Leicester, UK

    Corry Gellatly & Matthew J. Bown

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  1. Corry Gellatly
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  2. Matthew J. Bown
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Correspondence to Matthew J. Bown.

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The authors declare no competing interests.

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Gellatly, C., Bown, M.J. Clinical utility of genomic analyses and polygenic risk scores for aortic diseases. Nat Cardiovasc Res 1, 542–543 (2022). https://doi.org/10.1038/s44161-022-00058-0

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