{
    "abstract": "Left ventricular mass is a risk marker for cardiovascular events, and may indicate an underlying cardiomyopathy. Cardiac magnetic resonance is the gold-standard for left ventricular mass estimation, but is challenging to obtain at scale. Here, we use deep learning to enable genome-wide association study of cardiac magnetic resonance-derived left ventricular mass indexed to body surface area within 43,230 UK Biobank participants. We identify 12 genome-wide associations (1 known at TTN and 11 novel for left ventricular mass), implicating genes previously associated with cardiac contractility and cardiomyopathy. Cardiac magnetic resonance-derived indexed left ventricular mass is associated with incident dilated and hypertrophic cardiomyopathies, and implantable cardioverter-defibrillator implant. An indexed left ventricular mass polygenic risk score \u226590",
    "authors": [
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.\nDemoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.",
            "firstname": "Shaan",
            "initials": "S",
            "lastname": "Khurshid"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.\nDepartment of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.",
            "firstname": "Julieta",
            "initials": "J",
            "lastname": "Lazarte"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.\nDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.",
            "firstname": "James P",
            "initials": "JP",
            "lastname": "Pirruccello"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Lu-Chen",
            "initials": "LC",
            "lastname": "Weng"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Seung Hoan",
            "initials": "SH",
            "lastname": "Choi"
        },
        {
            "affiliation": "Gene Regulation Observatory, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Amelia W",
            "initials": "AW",
            "lastname": "Hall"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Xin",
            "initials": "X",
            "lastname": "Wang"
        },
        {
            "affiliation": "Data Sciences Platform, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Samuel F",
            "initials": "SF",
            "lastname": "Friedman"
        },
        {
            "affiliation": "Division of Cardiology, Brigham and Women's Hospital, Boston, MA, USA.",
            "firstname": "Victor",
            "initials": "V",
            "lastname": "Nauffal"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Kiran J",
            "initials": "KJ",
            "lastname": "Biddinger"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.\nDivision of Cardiology, Massachusetts General Hospital, Boston, MA, USA.",
            "firstname": "Krishna G",
            "initials": "KG",
            "lastname": "Aragam"
        },
        {
            "affiliation": "Data Sciences Platform, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Puneet",
            "initials": "P",
            "lastname": "Batra"
        },
        {
            "affiliation": "Cardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.\nCardioVascular Institute and Division of Cardiology, Department of Medicine, Beth Israel Deaconess Medical Center, Boston, MA, USA.",
            "firstname": "Jennifer E",
            "initials": "JE",
            "lastname": "Ho"
        },
        {
            "affiliation": "Data Sciences Platform, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.",
            "firstname": "Anthony A",
            "initials": "AA",
            "lastname": "Philippakis"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA.\nDemoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.",
            "firstname": "Patrick T",
            "initials": "PT",
            "lastname": "Ellinor"
        },
        {
            "affiliation": "Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA. slubitz@mgh.harvard.edu.\nCardiovascular Disease Initiative, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA. slubitz@mgh.harvard.edu.\nDemoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA. slubitz@mgh.harvard.edu.",
            "firstname": "Steven A",
            "initials": "SA",
            "lastname": "Lubitz"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2023. The Author(s).",
    "doi": "10.1038/s41467-023-37173-w\n10.1016/j.jacc.2008.09.014\n10.1148/radiol.2019182871\n10.1253/circj.CJ-16-0062\n10.1016/j.jacc.2014.01.066\n10.1016/S0735-1097(98)00407-0\n10.1080/00365510600892233\n10.1172/JCI84840\n10.1038/s41588-018-0047-6\n10.1038/s41598-020-64525-z\n10.1161/CIRCULATIONAHA.119.041161\n10.1001/jamacardio.2015.0252\n10.1038/s41467-019-13690-5\n10.1038/s41588-020-00762-2\n10.1016/j.jacep.2017.12.003\n10.1038/ncomms6326\n10.1002/humu.22942\n10.1038/nature14177\n10.1038/s41467-020-15823-7\n10.1038/s41588-018-0133-9\n10.1172/JCI36277\n10.1159/000365057\n10.1161/CIRCGENETICS.117.001838\n10.1158/1078-0432.CCR-16-0908\n10.1016/j.jacc.2016.07.729\n10.1038/s41569-020-0381-0\n10.1007/s00018-017-2737-0\n10.1073/pnas.070371497\n10.3390/cells9051092\n10.1016/j.tem.2015.11.009\n10.1056/NEJMoa1110186\n10.1001/jama.2018.18179\n10.1093/hmg/ddv421\n10.1161/01.RES.0000109415.17511.18\n10.1038/ng1295-434\n10.1016/S0006-291X(02)02374-4\n10.1016/j.cels.2020.08.005\n10.1038/s41467-020-15706-x\n10.1038/s41467-020-17374-3\n10.1161/HYPERTENSIONAHA.119.12679\n10.1186/s12933-022-01540-6\n10.1007/s10554-017-1225-9\n10.1186/s12968-018-0471-x\n10.1186/s12968-017-0327-9\n10.1093/aje/kwx246\n10.1371/journal.pmed.1001779\n10.1093/eurheartj/ehx254\n10.1186/s12968-016-0227-4\n10.1038/s41588-018-0144-6\n10.1038/s41586-019-1310-4\n10.1172/JCI146077\n10.1534/genetics.116.193383\n10.1002/gepi.22492\n10.1038/ng.3211\n10.1097/HJH.0b013e32833105a6\n10.1038/nature24277\n10.1093/eurheartj/ehab466\n10.1038/s41467-018-03621-1\n10.1093/nar/gky1120\n10.1161/01.CIR.103.1.102\n10.1038/s41588-018-0205-x\n10.1038/s41588-022-01058-3\n10.1186/s13073-019-0616-z\n10.1038/s41586-020-2308-7\n10.1186/s13059-016-0974-4\n10.1038/s41588-021-01011-w\n10.1002/humu.22932\n10.1093/biomet/81.3.515\n10.1038/s41588-021-00783-5\n10.1111/1467-9868.00125",
    "journal": "Nature communications",
    "keywords": [],
    "methods": null,
    "publication_date": "2023-03-23",
    "pubmed_id": "36944631\n19095132\n31453766\n26853555\n24657688\n9809962\n17101557\n28394258\n29403010\n32372017\n31554410\n35265898\n27437659\n31919418\n33495596\n30067491\n25351925\n26666891\n25673413\n32382064\n29892015\n18846255\n25337069\n29237688\n27993963\n27659466\n32444692\n29302701\n10737768\n32354146\n26712712\n22335739\n30535219\n26472074\n14656927\n7493025\n12379228\n32916098\n32439900\n32820175\n31476911\n35715813\n28836039\n30217194\n28178995\n28641372\n25826379\n28531320\n26830817\n2520314\n29892013\n31217584\n34014839\n28381588\n35842778\n25642630\n19898252\n29022597\n34338756\n29739930\n30445434\n11136693\n30224653\n35551307\n30696458\n32461654\n27268795\n35177841\n26555599\n33692568",
    "results": null,
    "title": "Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.",
    "xml": "<Element 'PubmedArticle' at 0x7885027eac00>"
}