Assem Aweimer, Andreas Mügge, Ibrahim Akin, Ibrahim El-Battrawy
{"title":"[无症状渠道病:风险分层和初级预防]。","authors":"Assem Aweimer, Andreas Mügge, Ibrahim Akin, Ibrahim El-Battrawy","doi":"10.1007/s00399-023-00937-4","DOIUrl":null,"url":null,"abstract":"<p><p>In general, asymptomatic patients with channelopathies are at increased risk of sudden cardiac death (SCD), due to pathogenic variants in genes encoding ion channels that result in pathological ion currents. Channelopathies include long-QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short-QT syndrome (SQTS). In addition to the patient's clinical presentation, history and clinical tests, the main diagnostic tools are electrocardiography and genetic testing to identify known gene mutations. Early and correct diagnosis as well as further risk stratification of affected individuals and their relatives are paramount for prognosis. The recent availability of risk score calculators for LQTS and BrS allows SCD risk to be accurately estimated. The extent to which these improve patient selection for treatment with an implantable cardioverter-defibrillator (ICD) system is currently unknown. In most cases, initiation of basic therapy in asymptomatic patients in the form of avoidance of triggers, which are usually medication or stressful situations, is sufficient and contributes to risk reduction. In addition, there are other risk-reducing prophylactic measures, such as permanent medication with nonselective β‑ blockers (for LQTS and CPVT) or mexiletine for LQTS3. Patients and their family members should be referred to specialized outpatient clinics for individual risk stratification in the sense of primary prophylaxis.</p>","PeriodicalId":52403,"journal":{"name":"Herzschrittmachertherapie und Elektrophysiologie","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Asymptomatic channelopathies : Risk stratification and primary prophylaxis].\",\"authors\":\"Assem Aweimer, Andreas Mügge, Ibrahim Akin, Ibrahim El-Battrawy\",\"doi\":\"10.1007/s00399-023-00937-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>In general, asymptomatic patients with channelopathies are at increased risk of sudden cardiac death (SCD), due to pathogenic variants in genes encoding ion channels that result in pathological ion currents. Channelopathies include long-QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short-QT syndrome (SQTS). In addition to the patient's clinical presentation, history and clinical tests, the main diagnostic tools are electrocardiography and genetic testing to identify known gene mutations. Early and correct diagnosis as well as further risk stratification of affected individuals and their relatives are paramount for prognosis. The recent availability of risk score calculators for LQTS and BrS allows SCD risk to be accurately estimated. The extent to which these improve patient selection for treatment with an implantable cardioverter-defibrillator (ICD) system is currently unknown. In most cases, initiation of basic therapy in asymptomatic patients in the form of avoidance of triggers, which are usually medication or stressful situations, is sufficient and contributes to risk reduction. In addition, there are other risk-reducing prophylactic measures, such as permanent medication with nonselective β‑ blockers (for LQTS and CPVT) or mexiletine for LQTS3. Patients and their family members should be referred to specialized outpatient clinics for individual risk stratification in the sense of primary prophylaxis.</p>\",\"PeriodicalId\":52403,\"journal\":{\"name\":\"Herzschrittmachertherapie und Elektrophysiologie\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Herzschrittmachertherapie und Elektrophysiologie\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s00399-023-00937-4\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Herzschrittmachertherapie und Elektrophysiologie","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s00399-023-00937-4","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[Asymptomatic channelopathies : Risk stratification and primary prophylaxis].
In general, asymptomatic patients with channelopathies are at increased risk of sudden cardiac death (SCD), due to pathogenic variants in genes encoding ion channels that result in pathological ion currents. Channelopathies include long-QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and short-QT syndrome (SQTS). In addition to the patient's clinical presentation, history and clinical tests, the main diagnostic tools are electrocardiography and genetic testing to identify known gene mutations. Early and correct diagnosis as well as further risk stratification of affected individuals and their relatives are paramount for prognosis. The recent availability of risk score calculators for LQTS and BrS allows SCD risk to be accurately estimated. The extent to which these improve patient selection for treatment with an implantable cardioverter-defibrillator (ICD) system is currently unknown. In most cases, initiation of basic therapy in asymptomatic patients in the form of avoidance of triggers, which are usually medication or stressful situations, is sufficient and contributes to risk reduction. In addition, there are other risk-reducing prophylactic measures, such as permanent medication with nonselective β‑ blockers (for LQTS and CPVT) or mexiletine for LQTS3. Patients and their family members should be referred to specialized outpatient clinics for individual risk stratification in the sense of primary prophylaxis.
期刊介绍:
Mit wissenschaftlichen Original- und Übersichtsarbeiten, Berichten über moderne Operationstechniken und experimentelle Methoden ist die Zeitschrift Herzschrittmachertherapie + Elektrophysiologie ein Diskussionsforum für Themen wie:
- Zelluläre Elektrophysiologie
- Theoretische Elektrophysiologie
- Klinische Elektrophysiologie
- Angewandte Herzschrittmachertherapie
- Bradykarde und tachykarde Herzrhythmusstörungen
- Plötzlicher Herztod und Risikostratifikation
- Elektrokardiographie
- Elektromedizinische Technologie
- Experimentelle und klinische Pharmakologie
- Herzchirurgie bei Herzrhythmusstörungen
Mitteilungen der Arbeitsgruppen Herzschrittmacher und Arrhythmie der Deutschen Gesellschaft für Kardiologie - Herz und Kreislaufforschung e.V. (DGK) sowie Stellungnahmen und praktische Hinweise runden das breite Spektrum dieser Zeitschrift ab.
Interessensgebiete: Kardiologie, Herzschrittmachertherapie, Herzschrittmachertechnologie, klinische Elektrophysiologie