{"title":"直系亲属扩张型心肌病筛查:筛查对象、筛查方式、筛查时间(以及筛查地点)","authors":"M. Pieroni, Michele Ciabattini, C. Zocchi","doi":"10.1093/eurheartjsupp/suae024","DOIUrl":null,"url":null,"abstract":"\n Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilation and systolic dysfunction in the absence of coronary artery disease, valvular disease, congenital heart disease, or altered haemodynamic conditions. Dilated cardiomyopathy can recognize multiple aetiologies, including infectious processes, effect of toxic substances, immunological mechanisms, and genetic causes. In recent years, many genes coding for proteins involved in the structure and function of the cardiomyocytes have been associated with the development of DCM, making the identification of familial forms increasingly frequent. At the same time, an ever-increasing use of cardiac magnetic resonance imaging has made it possible to identify early morpho-functional alterations in subjects with initial forms of the disease, or carriers of pathogenic genetic variants. The increasingly in-depth understanding of the genetic and molecular mechanisms operating in DCM has also favoured the development of new therapeutic strategies including drugs with molecular targets and gene therapies. In this panorama, screening of family members of patients affected by DCM represents an important tool for early diagnosis, treatment, and prognostic stratification. In relation to its clinical relevance and its complexity, it is important that family screening and follow-up of identified patients are carried out in units dedicated to the treatment and study of cardiomyopathies.","PeriodicalId":11956,"journal":{"name":"European Heart Journal Supplements","volume":null,"pages":null},"PeriodicalIF":1.7000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Screening for dilated cardiomyopathy in immediate family members: to whom, how, when (and where)\",\"authors\":\"M. Pieroni, Michele Ciabattini, C. Zocchi\",\"doi\":\"10.1093/eurheartjsupp/suae024\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\\n Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilation and systolic dysfunction in the absence of coronary artery disease, valvular disease, congenital heart disease, or altered haemodynamic conditions. Dilated cardiomyopathy can recognize multiple aetiologies, including infectious processes, effect of toxic substances, immunological mechanisms, and genetic causes. In recent years, many genes coding for proteins involved in the structure and function of the cardiomyocytes have been associated with the development of DCM, making the identification of familial forms increasingly frequent. At the same time, an ever-increasing use of cardiac magnetic resonance imaging has made it possible to identify early morpho-functional alterations in subjects with initial forms of the disease, or carriers of pathogenic genetic variants. The increasingly in-depth understanding of the genetic and molecular mechanisms operating in DCM has also favoured the development of new therapeutic strategies including drugs with molecular targets and gene therapies. In this panorama, screening of family members of patients affected by DCM represents an important tool for early diagnosis, treatment, and prognostic stratification. In relation to its clinical relevance and its complexity, it is important that family screening and follow-up of identified patients are carried out in units dedicated to the treatment and study of cardiomyopathies.\",\"PeriodicalId\":11956,\"journal\":{\"name\":\"European Heart Journal Supplements\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.7000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European Heart Journal Supplements\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1093/eurheartjsupp/suae024\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European Heart Journal Supplements","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1093/eurheartjsupp/suae024","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
Screening for dilated cardiomyopathy in immediate family members: to whom, how, when (and where)
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilation and systolic dysfunction in the absence of coronary artery disease, valvular disease, congenital heart disease, or altered haemodynamic conditions. Dilated cardiomyopathy can recognize multiple aetiologies, including infectious processes, effect of toxic substances, immunological mechanisms, and genetic causes. In recent years, many genes coding for proteins involved in the structure and function of the cardiomyocytes have been associated with the development of DCM, making the identification of familial forms increasingly frequent. At the same time, an ever-increasing use of cardiac magnetic resonance imaging has made it possible to identify early morpho-functional alterations in subjects with initial forms of the disease, or carriers of pathogenic genetic variants. The increasingly in-depth understanding of the genetic and molecular mechanisms operating in DCM has also favoured the development of new therapeutic strategies including drugs with molecular targets and gene therapies. In this panorama, screening of family members of patients affected by DCM represents an important tool for early diagnosis, treatment, and prognostic stratification. In relation to its clinical relevance and its complexity, it is important that family screening and follow-up of identified patients are carried out in units dedicated to the treatment and study of cardiomyopathies.
期刊介绍:
The European Heart Journal Supplements (EHJs) is a long standing member of the ESC Journal Family that serves as a publication medium for supplemental issues of the flagship European Heart Journal. Traditionally EHJs published a broad range of articles from symposia to special issues on specific topics of interest.
The Editor-in-Chief, Professor Roberto Ferrari, together with his team of eminent Associate Editors: Professor Francisco Fernández-Avilés, Professors Jeroen Bax, Michael Böhm, Frank Ruschitzka, and Thomas Lüscher from the European Heart Journal, has implemented a change of focus for the journal. This entirely refreshed version of the European Heart Journal Supplements now bears the subtitle the Heart of the Matter to give recognition to the focus the journal now has.
The EHJs – the Heart of the Matter intends to offer a dedicated, scientific space for the ESC, Institutions, National and Affiliate Societies, Associations, Working Groups and Councils to disseminate their important successes globally.