{"title":"分子尸检在年轻人心脏性猝死中的作用。","authors":"Julia C. Isbister, Christopher Semsarian","doi":"10.1038/s41569-024-00989-0","DOIUrl":null,"url":null,"abstract":"A molecular autopsy is undertaken in cases of sudden cardiac death with no definitive cause found after conventional autopsy, with the aim of identifying a pathological genetic variant that could account for the death. Greater awareness of malignant arrhythmias in the absence of structural changes in inherited cardiomyopathies has increased the applicability of molecular autopsies, and resulted in improved care of families but new challenges for clinicians.","PeriodicalId":18976,"journal":{"name":"Nature Reviews Cardiology","volume":"21 4","pages":"215-216"},"PeriodicalIF":41.7000,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The role of the molecular autopsy in sudden cardiac death in young individuals\",\"authors\":\"Julia C. Isbister, Christopher Semsarian\",\"doi\":\"10.1038/s41569-024-00989-0\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A molecular autopsy is undertaken in cases of sudden cardiac death with no definitive cause found after conventional autopsy, with the aim of identifying a pathological genetic variant that could account for the death. Greater awareness of malignant arrhythmias in the absence of structural changes in inherited cardiomyopathies has increased the applicability of molecular autopsies, and resulted in improved care of families but new challenges for clinicians.\",\"PeriodicalId\":18976,\"journal\":{\"name\":\"Nature Reviews Cardiology\",\"volume\":\"21 4\",\"pages\":\"215-216\"},\"PeriodicalIF\":41.7000,\"publicationDate\":\"2024-01-23\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Nature Reviews Cardiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.nature.com/articles/s41569-024-00989-0\",\"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":"Nature Reviews Cardiology","FirstCategoryId":"3","ListUrlMain":"https://www.nature.com/articles/s41569-024-00989-0","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
The role of the molecular autopsy in sudden cardiac death in young individuals
A molecular autopsy is undertaken in cases of sudden cardiac death with no definitive cause found after conventional autopsy, with the aim of identifying a pathological genetic variant that could account for the death. Greater awareness of malignant arrhythmias in the absence of structural changes in inherited cardiomyopathies has increased the applicability of molecular autopsies, and resulted in improved care of families but new challenges for clinicians.
期刊介绍:
Nature Reviews Cardiology aims to be the go-to source for reviews and commentaries in the scientific and clinical communities it serves. Focused on providing authoritative and accessible articles enriched with clear figures and tables, the journal strives to offer unparalleled service to authors, referees, and readers, maximizing the usefulness and impact of each publication. It covers a broad range of content types, including Research Highlights, Comments, News & Views, Reviews, Consensus Statements, and Perspectives, catering to practising cardiologists and cardiovascular research scientists. Authored by renowned clinicians, academics, and researchers, the content targets readers in the biological and medical sciences, ensuring accessibility across various disciplines. In-depth Reviews offer up-to-date information, while Consensus Statements provide evidence-based recommendations. Perspectives and News & Views present topical discussions and opinions, and the Research Highlights section filters primary research from cardiovascular and general medical journals. As part of the Nature Reviews portfolio, Nature Reviews Cardiology maintains high standards and a wide reach.