Role of genetic testing in cardiomyopathies:Αprimer for cardiologists  

作　　者：Georgia Vogiatzi George Lazaros Evangelos Oikonomou Emilia Lazarou Emmanouil Vavuranakis Dimitris Tousoulis 

机构地区：[1]The Third Department of Cardiology,Sotiria Hospital,Athens 11527,Greece [2]The First Department of Cardiology,Hippokration Hospital,Athens 11526,Greece [3]The First Department of Cardiology,Hippokration Hospital,Medical School of National and Kapodistrian University of Athens,Athens 11527,Greece

出　　处：《World Journal of Cardiology》2022年第1期29-39,共11页世界心脏病学杂志（英文版）（电子版）

摘　　要：Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited cardiomyopathies.As novel mutations have been identified,understanding when to consider genetic testing has emerged as an important consideration in the management of these cases.Specific genetic testing has a paramount importance in the risk stratification of family members,in the prognosis of probands at higher risk of a serious phenotype expression,and finally in the identification of new mutations,all of which are discussed in this review.The indications for each type of cardiomyopathy are described,along with the limitations of genetic testing.Finally,the importance of public sharing of variants in large data sets is emphasized.The ultimate aim of this review is to present key messages about the genetic testing process in order to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team in order to offer the best care to families with inherited cardiomyopathies.

关 键 词：CARDIOMYOPATHY Genetic counselling Genetic testing VARIANT HEREDITARY 

分 类 号：R542.2[医药卫生—心血管疾病]