{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T17:37:18Z","timestamp":1791308238058,"version":"4.3.1"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"14","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2021,7,20]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">We aimed to provide personalized risk estimates for cardiac events (CEs) and life\u2010threatening events in women with either type 1 or type 2 long QT.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">The prognostic model was derived from the Rochester Long QT Syndrome Registry, comprising 767 women with type 1 long QT (n=404) and type 2 long QT (n=363) from age 15 through 60\u00a0years. The risk prediction model included the following variables: genotype\/mutation location, QTc\u2010specific thresholds, history of syncope, and \u03b2\u2010blocker therapy. A model was developed with the end point of CEs (syncope, aborted cardiac arrest, or long QT syndrome\u2013related sudden cardiac death), and was applied with the end point of life\u2010threatening events (aborted cardiac arrest, sudden cardiac death, or appropriate defibrillator shocks). External validation was performed with data from the Mayo Clinic Genetic Heart Rhythm Clinic (N=467; type 1 long QT [n=286] and type 2 long QT [n=181]). The cumulative follow\u2010up duration among the 767 enrolled women was 22\u00a0243 patient\u2010years, during which 323 patients (42%) experienced \u22651 CE. Based on genotype\u2010phenotype data, we identified 3 risk groups with 10\u2010year projected rates of CEs ranging from 15%, 29%, to 51%. The corresponding 10\u2010year projected rates of life\u2010threatening events were 2%, 5%, and 14%. C statistics for the prediction model for the 2 respective end points were 0.68 (95% CI 0.65\u20130.71) and 0.71 (95% CI 0.66\u20130.76). Corresponding C statistics for the model in the external validation Mayo Clinic cohort were 0.65 (95% CI 0.60\u20130.70) and 0.77 (95% CI 0.70\u20130.84).<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">This is the first risk prediction model that provides absolute risk estimates for CEs and life\u2010threatening events in women with type 1 or type 2 long QT based on personalized genotype\u2010phenotype data. The projected risk estimates can be used to guide female\u2010specific management in long QT syndrome.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.121.021088","type":"journal-article","created":{"date-parts":[[2021,7,9]],"date-time":"2021-07-09T08:53:06Z","timestamp":1625820786000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Risk Prediction in Women With Congenital Long QT Syndrome"],"prefix":"10.1161","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5806-3325","authenticated-orcid":false,"given":"Ilan","family":"Goldenberg","sequence":"first","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3635-2003","authenticated-orcid":false,"given":"J. Martijn","family":"Bos","sequence":"additional","affiliation":[{"name":"Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology and the Windland Smith Rice Genetic Heart Rhythm Clinic), and Molecular Pharmacology &amp; Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory) Mayo Clinic Rochester MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayhan","family":"Yoruk","sequence":"additional","affiliation":[{"name":"Division of Cardiology The University of California, San Francisco Medical Center San Francisco CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita Y.","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"},{"name":"Department of Biostatistics and Computational Biology University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coeli","family":"Lopes","sequence":"additional","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T.","family":"Huang","sequence":"additional","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Kutyifa","sequence":"additional","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arwa","family":"Younis","sequence":"additional","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9003-9384","authenticated-orcid":false,"given":"Mehmet K.","family":"Aktas","sequence":"additional","affiliation":[{"name":"Division of Cardiology Clinical Cardiovascular Research Center University of Rochester Medical Center Rochester NY"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Spencer","family":"Z. 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