Peter J Schwartz, Federica Dagradi, Fulvio L F Giovenzana, Paolo Cerea
{"title":"[长QT综合征:诊断和治疗的关键方法]。","authors":"Peter J Schwartz, Federica Dagradi, Fulvio L F Giovenzana, Paolo Cerea","doi":"10.1714/4501.45020","DOIUrl":null,"url":null,"abstract":"<p><p>The long QT syndrome (LQTS) is a cardiac disease of genetic origin which, unless properly diagnosed and managed, carries a high risk for sudden cardiac death, especially among youngsters. At the same time, the available therapies are quite effective. Most lethal episodes occur as the sentinel event, stressing the fact that most of the time there is no room for error in diagnosis or management. Here, we endeavored to share the 50-year specific experience of our group, by critically discussing both the approach and management of LQTS. Following an analysis of the clinical impact of the genetic findings, essential for personalized management, we focused on diagnosis and especially on management by analyzing the therapies currently available (beta-blockers, left cardiac sympathetic denervation, mexiletine and the implantable cardioverter-defibrillator) and those which are still experimental. We thought it appropriate to show examples of major clinical errors which unfortunately keep recurring. LQTS is a moving target, because the arrhythmic risk can decrease in response to therapy or increase for still unknown reasons: this forces the need for a constant reassessment of the arrhythmic risk of these patients. This regular reassessment, which we deem essential to protect the patients' life, represents an integral part of our management strategy because it allows yearly therapeutic optimization, key to our patients' survival. Practically, almost all patients with LQTS could have an essentially normal life, if they are correctly managed.</p>","PeriodicalId":12510,"journal":{"name":"Giornale italiano di cardiologia","volume":"26 6","pages":"395-407"},"PeriodicalIF":0.7000,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[The long QT syndrome: a critical approach to diagnosis and management].\",\"authors\":\"Peter J Schwartz, Federica Dagradi, Fulvio L F Giovenzana, Paolo Cerea\",\"doi\":\"10.1714/4501.45020\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The long QT syndrome (LQTS) is a cardiac disease of genetic origin which, unless properly diagnosed and managed, carries a high risk for sudden cardiac death, especially among youngsters. At the same time, the available therapies are quite effective. Most lethal episodes occur as the sentinel event, stressing the fact that most of the time there is no room for error in diagnosis or management. Here, we endeavored to share the 50-year specific experience of our group, by critically discussing both the approach and management of LQTS. Following an analysis of the clinical impact of the genetic findings, essential for personalized management, we focused on diagnosis and especially on management by analyzing the therapies currently available (beta-blockers, left cardiac sympathetic denervation, mexiletine and the implantable cardioverter-defibrillator) and those which are still experimental. We thought it appropriate to show examples of major clinical errors which unfortunately keep recurring. LQTS is a moving target, because the arrhythmic risk can decrease in response to therapy or increase for still unknown reasons: this forces the need for a constant reassessment of the arrhythmic risk of these patients. This regular reassessment, which we deem essential to protect the patients' life, represents an integral part of our management strategy because it allows yearly therapeutic optimization, key to our patients' survival. Practically, almost all patients with LQTS could have an essentially normal life, if they are correctly managed.</p>\",\"PeriodicalId\":12510,\"journal\":{\"name\":\"Giornale italiano di cardiologia\",\"volume\":\"26 6\",\"pages\":\"395-407\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Giornale italiano di cardiologia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1714/4501.45020\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Giornale italiano di cardiologia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1714/4501.45020","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
[The long QT syndrome: a critical approach to diagnosis and management].
The long QT syndrome (LQTS) is a cardiac disease of genetic origin which, unless properly diagnosed and managed, carries a high risk for sudden cardiac death, especially among youngsters. At the same time, the available therapies are quite effective. Most lethal episodes occur as the sentinel event, stressing the fact that most of the time there is no room for error in diagnosis or management. Here, we endeavored to share the 50-year specific experience of our group, by critically discussing both the approach and management of LQTS. Following an analysis of the clinical impact of the genetic findings, essential for personalized management, we focused on diagnosis and especially on management by analyzing the therapies currently available (beta-blockers, left cardiac sympathetic denervation, mexiletine and the implantable cardioverter-defibrillator) and those which are still experimental. We thought it appropriate to show examples of major clinical errors which unfortunately keep recurring. LQTS is a moving target, because the arrhythmic risk can decrease in response to therapy or increase for still unknown reasons: this forces the need for a constant reassessment of the arrhythmic risk of these patients. This regular reassessment, which we deem essential to protect the patients' life, represents an integral part of our management strategy because it allows yearly therapeutic optimization, key to our patients' survival. Practically, almost all patients with LQTS could have an essentially normal life, if they are correctly managed.