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Genetic analysis of cardiac dynamic flow volumes identifies loci mapping aortic root size

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An open-source automated algorithm called DeepFlow enables large-scale derivation of aortic flow measurements, and genetic analysis of aortic flow, structural and functional traits demonstrates a causal relationship between aortic size and aortic valve regurgitation.

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Fig. 1: Overlap of loci associated with aortic area and forward peak velocity (fVmax) with cardiac magnetic resonance traits and aortic distensibility measured using echocardiography.

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Acknowledgements

P.B.M. acknowledges support of the National Institute for Health and Care Research Barts Biomedical Research Centre (NIHR203330), a delivery partnership of Barts Health NHS, Queen Mary University of London, St George’s University Hospitals NHS Foundation Trust and St George’s University of London. N.A. acknowledges support from the Medical Research Council for his Clinician Scientist Fellowship (MR/X020924/1). J.R. acknowledges funding from the European Union–NextGenerationEU fellowship RYC2021-031413-I from MCIN/AEI/10.13039/501100011033, ‘NextGenerationEU/PRTR’’ from the European Union and from grant PID2021-128972OA-I00, funded by MCIN/AEI/10.13039/501100011033.

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Authors and Affiliations

  1. William Harvey Research Institute, Barts and the London Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK

    Patricia B. Munroe, Nay Aung & Julia Ramírez

  2. Barts Heart Centre, St Bartholomew’s Hospital, Barts Health NHS Trust, London, UK

    Nay Aung

  3. Aragon Institute of Engineering Research, University of Zaragoza, Zaragoza, Spain

    Julia Ramírez

  4. Centro de Investigación Biomédica en Red–Bioingeniería, Biomateriales y Nanomedicina, Zaragoza, Spain

    Julia Ramírez

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  1. Patricia B. Munroe
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  2. Nay Aung
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  3. Julia Ramírez
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Correspondence to Patricia B. Munroe.

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Munroe, P.B., Aung, N. & Ramírez, J. Genetic analysis of cardiac dynamic flow volumes identifies loci mapping aortic root size. Nat Genet 56, 197–199 (2024). https://doi.org/10.1038/s41588-023-01650-1

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