Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwartz
{"title":"基因型阴性长 QT 综合征患者的临床特征、长期预后和临床管理。","authors":"Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwartz","doi":"10.1016/j.jacep.2024.07.022","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Approximately 15% to 20% of patients clinically diagnosed with long QT syndrome (LQTS) are genotype-negative (GEN-). Whether they have a different arrhythmic risk or should be managed differently remains unclear, often leading to incomplete treatment.</p><p><strong>Objectives: </strong>The purpose of this study was to compare clinical aspects of GEN- and genotype-positive (GEN+) LQTS patients.</p><p><strong>Methods: </strong>We retrospectively evaluated 832 LQTS patients genetically screened in Japan (n = 347) and Italy (n = 485), including 698 with a disease-causing variant in the KCNQ1, KCNH2, and SCN5A genes (GEN+), and 134 without variants in these LQTS-related genes (GEN-).</p><p><strong>Results: </strong>At diagnosis, the Japanese patients were more often probands (86% vs 60%), symptomatic (39% vs 18%), and of younger age than the Italian patients; conversely, they used less β-blockers (65% vs 95%), more rarely had a family history (FH) of LQTS (42% vs 73%), and had more cardiac events during follow-up (13% vs 4%) (P < 0.001 for all comparisons). Within the Japanese cohort, the GEN- had more cardiac arrests, used less β-blockers, and had much less FH for LQTS compared their GEN+ counterpart. The Italian cohort was more homogeneous, with just more LQTS FH among the GEN+. QTc shortening (close to 30 ms in all groups) during follow-up was similar between Japanese and Italian patients, irrespective of their being GEN+ or GEN-. In both cohorts, during an average follow-up of 6 and 7 years, respectively, GEN+ and GEN- patients showed a comparable clinical outcome.</p><p><strong>Conclusions: </strong>Arrhythmic risk is similar between GEN+ and GEN- LQTS patients; they should be managed and treated in the same way.</p>","PeriodicalId":14573,"journal":{"name":"JACC. Clinical electrophysiology","volume":" ","pages":""},"PeriodicalIF":8.0000,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients.\",\"authors\":\"Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwartz\",\"doi\":\"10.1016/j.jacep.2024.07.022\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Approximately 15% to 20% of patients clinically diagnosed with long QT syndrome (LQTS) are genotype-negative (GEN-). Whether they have a different arrhythmic risk or should be managed differently remains unclear, often leading to incomplete treatment.</p><p><strong>Objectives: </strong>The purpose of this study was to compare clinical aspects of GEN- and genotype-positive (GEN+) LQTS patients.</p><p><strong>Methods: </strong>We retrospectively evaluated 832 LQTS patients genetically screened in Japan (n = 347) and Italy (n = 485), including 698 with a disease-causing variant in the KCNQ1, KCNH2, and SCN5A genes (GEN+), and 134 without variants in these LQTS-related genes (GEN-).</p><p><strong>Results: </strong>At diagnosis, the Japanese patients were more often probands (86% vs 60%), symptomatic (39% vs 18%), and of younger age than the Italian patients; conversely, they used less β-blockers (65% vs 95%), more rarely had a family history (FH) of LQTS (42% vs 73%), and had more cardiac events during follow-up (13% vs 4%) (P < 0.001 for all comparisons). Within the Japanese cohort, the GEN- had more cardiac arrests, used less β-blockers, and had much less FH for LQTS compared their GEN+ counterpart. The Italian cohort was more homogeneous, with just more LQTS FH among the GEN+. QTc shortening (close to 30 ms in all groups) during follow-up was similar between Japanese and Italian patients, irrespective of their being GEN+ or GEN-. In both cohorts, during an average follow-up of 6 and 7 years, respectively, GEN+ and GEN- patients showed a comparable clinical outcome.</p><p><strong>Conclusions: </strong>Arrhythmic risk is similar between GEN+ and GEN- LQTS patients; they should be managed and treated in the same way.</p>\",\"PeriodicalId\":14573,\"journal\":{\"name\":\"JACC. Clinical electrophysiology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":8.0000,\"publicationDate\":\"2024-09-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JACC. Clinical electrophysiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.jacep.2024.07.022\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JACC. Clinical electrophysiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.jacep.2024.07.022","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients.
Background: Approximately 15% to 20% of patients clinically diagnosed with long QT syndrome (LQTS) are genotype-negative (GEN-). Whether they have a different arrhythmic risk or should be managed differently remains unclear, often leading to incomplete treatment.
Objectives: The purpose of this study was to compare clinical aspects of GEN- and genotype-positive (GEN+) LQTS patients.
Methods: We retrospectively evaluated 832 LQTS patients genetically screened in Japan (n = 347) and Italy (n = 485), including 698 with a disease-causing variant in the KCNQ1, KCNH2, and SCN5A genes (GEN+), and 134 without variants in these LQTS-related genes (GEN-).
Results: At diagnosis, the Japanese patients were more often probands (86% vs 60%), symptomatic (39% vs 18%), and of younger age than the Italian patients; conversely, they used less β-blockers (65% vs 95%), more rarely had a family history (FH) of LQTS (42% vs 73%), and had more cardiac events during follow-up (13% vs 4%) (P < 0.001 for all comparisons). Within the Japanese cohort, the GEN- had more cardiac arrests, used less β-blockers, and had much less FH for LQTS compared their GEN+ counterpart. The Italian cohort was more homogeneous, with just more LQTS FH among the GEN+. QTc shortening (close to 30 ms in all groups) during follow-up was similar between Japanese and Italian patients, irrespective of their being GEN+ or GEN-. In both cohorts, during an average follow-up of 6 and 7 years, respectively, GEN+ and GEN- patients showed a comparable clinical outcome.
Conclusions: Arrhythmic risk is similar between GEN+ and GEN- LQTS patients; they should be managed and treated in the same way.
期刊介绍：
JACC: Clinical Electrophysiology is one of a family of specialist journals launched by the renowned Journal of the American College of Cardiology (JACC). It encompasses all aspects of the epidemiology, pathogenesis, diagnosis and treatment of cardiac arrhythmias. Submissions of original research and state-of-the-art reviews from cardiology, cardiovascular surgery, neurology, outcomes research, and related fields are encouraged. Experimental and preclinical work that directly relates to diagnostic or therapeutic interventions are also encouraged. In general, case reports will not be considered for publication.
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