{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T15:32:01Z","timestamp":1782228721877,"version":"3.54.5"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Arrhythmia and Electrophysiology"],"published-print":{"date-parts":[[2015,8]]},"abstract":"<jats:sec>\n            <jats:title>Background\u2014<\/jats:title>\n            <jats:p>Early diagnosis and risk stratification is of clinical importance in the long QT syndrome (LQTS), however, little genotype-specific data are available regarding fetal LQTS. We investigate third trimester fetal heart rate, routinely recorded within public maternal health care, as a possible marker for LQT1 genotype and phenotype.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results\u2014<\/jats:title>\n            <jats:p>\n              This retrospective study includes 184 fetuses from 2 LQT1 founder populations segregating p.Y111C and p.R518X (74 noncarriers and 110\n              <jats:italic>KCNQ1<\/jats:italic>\n              mutation carriers, whereof 13 double mutation carriers). Pedigree-based measured genotype analysis revealed significant associations between fetal heart rate, genotype, and phenotype; mean third trimester prelabor fetal heart rates obtained from obstetric records (gestational week 29\u201341) were lower per added mutation (no mutation, 143\u00b15 beats per minute; single mutation, 134\u00b18 beats per minute; double mutations, 111\u00b16 beats per minute;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001), and lower in symptomatic versus asymptomatic mutation carriers (122\u00b110 versus 137\u00b19 beats per minute;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001). Strong correlations between fetal heart rate and neonatal heart rate (\n              <jats:italic>r<\/jats:italic>\n              =0.700;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001), and postnatal QTc (\n              <jats:italic>r<\/jats:italic>\n              =\u22120.762;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001) were found. In a multivariable model, fetal genotype explained the majority of variance in fetal heart rate (\u221210 beats per minute per added mutation;\n              <jats:italic>P<\/jats:italic>\n              &lt;1.0\u00d710\n              <jats:sup>\u201323<\/jats:sup>\n              ). Arrhythmia symptoms and intrauterine \u03b2-blocker exposure each predicted \u22127 beats per minute,\n              <jats:italic>P<\/jats:italic>\n              &lt;0.0001.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions\u2014<\/jats:title>\n            <jats:p>In this study including 184 fetuses from 2 LQT1 founder populations, third trimester fetal heart rate discriminated between fetal genotypes and correlated with severity of postnatal cardiac phenotype. This finding strengthens the role of fetal heart rate in the early detection and risk stratification of LQTS, particularly for fetuses with double mutations, at high risk of early life-threatening arrhythmias.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circep.114.002552","type":"journal-article","created":{"date-parts":[[2015,5,28]],"date-time":"2015-05-28T02:40:58Z","timestamp":1432780858000},"page":"806-814","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":28,"title":["Third Trimester Fetal Heart Rate Predicts Phenotype and Mutation Burden in the Type 1 Long QT Syndrome"],"prefix":"10.1161","volume":"8","author":[{"given":"Annika","family":"Winbo","sequence":"first","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inger","family":"Fosdal","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Lindh","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulla-Britt","family":"Diamant","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johan","family":"Persson","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"Wettrell","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annika","family":"Rydberg","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Sciences, Pediatrics (A.W., M.L., J.P., A.R.) and Department of Public Health and Clinical Medicine, Heart Centre (U.-B.D.), Ume\u00e5 University, Ume\u00e5, Sweden; Pediatric Clinic, Visby Hospital, Visby, Sweden (I.F.); Department of Pediatrics and Pediatric Cardiology, University of Lund, Lund, Sweden (G.W.); and Department of Physiology, University of Auckland, Auckland, New Zealand (A.W.)."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcp0706513"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.863209"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2010.06.013"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2005.01.020"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000125524.34234.13"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8703(57)90079-0"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990924)89:3<137::AID-AJMG4>3.0.CO;2-C"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/europace\/eus111"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1080\/00365510701765643"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1080\/07853890802668530"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2261-14-22"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1159\/000339150"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.113.000618"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCEP.109.882159"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.114132"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.hrthm.2010.11.043"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-2-3-191"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/301844"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/1479-7364-1-6-456"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGENETICS.108.825547"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1982.tb01588.x"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1986.tb01037.x"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(01)00350-9"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.0000250262.12219.95"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.09.049"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2006.00587.x"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.105.592899"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.117973"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2009.05.029"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8167.2006.00408.x"}],"container-title":["Circulation: Arrhythmia and Electrophysiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCEP.114.002552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T23:45:16Z","timestamp":1715557516000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCEP.114.002552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,8]]}},"alternative-id":["10.1161\/CIRCEP.114.002552"],"URL":"https:\/\/doi.org\/10.1161\/circep.114.002552","relation":{},"ISSN":["1941-3149","1941-3084"],"issn-type":[{"value":"1941-3149","type":"print"},{"value":"1941-3084","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8]]},"assertion":[{"value":"2014-10-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-05-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-05-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}