{"title":"[Postmortem genetic analysis following sudden cardiac death : Background, approach, and future].","authors":"Silke Kauferstein, Britt-Maria Beckmann","doi":"10.1007/s00399-023-00986-9","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Sudden cardiac death (SCD) is defined as an unexpected, nontraumatic death with a possible cardiac or unknown cause. The lowest incidence is observed in infancy and childhood (1 per 100,000), and the incidence is approximately 50 per 100,000 in the middle-aged population, reaching a plateau around the age of 80 (200 per 100,000). While most SCD cases occur in older people with coronary artery disease, there is a predominance of monogenetic and polygenetic diseases in the young.</p><p><strong>Methods: </strong>Postmortem genetic analysis (molecular autopsy) using next-generation sequencing reveals a definite pathogenic genetic alteration, which can explain SCD of young patients in near 20% of the cases. Hence, postmortem genetic analysis has become an important tool to unravel the inheritable cause of death. Furthermore, early identification of a pathogenic genetic sequence variant in the deceased is crucial to reduce risk in relatives due to preventive personalized measures.</p><p><strong>Results and conclusion: </strong>Postmortem genetic analysis forms together with the clinical assessment the basis for early identification of at-risk relatives. A new guideline for the management of ventricular arrhythmias and prevention of sudden death was recently published by the European Society of Cardiology. The new recommendations give genetic testing, also in deceased patients a much higher priority reflecting increasing relevance of genetic testing for diagnostic evaluation, risk stratification and prevention.</p>","PeriodicalId":52403,"journal":{"name":"Herzschrittmachertherapie und Elektrophysiologie","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-03-01","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/s00399-023-00986-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/10 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Sudden cardiac death (SCD) is defined as an unexpected, nontraumatic death with a possible cardiac or unknown cause. The lowest incidence is observed in infancy and childhood (1 per 100,000), and the incidence is approximately 50 per 100,000 in the middle-aged population, reaching a plateau around the age of 80 (200 per 100,000). While most SCD cases occur in older people with coronary artery disease, there is a predominance of monogenetic and polygenetic diseases in the young.
Methods: Postmortem genetic analysis (molecular autopsy) using next-generation sequencing reveals a definite pathogenic genetic alteration, which can explain SCD of young patients in near 20% of the cases. Hence, postmortem genetic analysis has become an important tool to unravel the inheritable cause of death. Furthermore, early identification of a pathogenic genetic sequence variant in the deceased is crucial to reduce risk in relatives due to preventive personalized measures.
Results and conclusion: Postmortem genetic analysis forms together with the clinical assessment the basis for early identification of at-risk relatives. A new guideline for the management of ventricular arrhythmias and prevention of sudden death was recently published by the European Society of Cardiology. The new recommendations give genetic testing, also in deceased patients a much higher priority reflecting increasing relevance of genetic testing for diagnostic evaluation, risk stratification and prevention.
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