Role of genetic testing in cardiomyopathies:Αprimer for cardiologists
作者机构：The Third Department of CardiologySotiria HospitalAthens 11527Greece The First Department of CardiologyHippokration HospitalAthens 11526Greece The First Department of CardiologyHippokration HospitalMedical School of National and Kapodistrian University of AthensAthens 11527Greece
出 版 物：《World Journal of Cardiology》 (世界心脏病学杂志（英文版）（电子版）)
年 卷 期：2022年第14卷第1期
页 面：29-39页
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
主 题：Cardiomyopathy Genetic counselling Genetic testing Variant Hereditary
摘 要：Recent advances in cardiovascular genetics have transformed genetic testing into a valuable part of management of families with inherited *** novel mutations have been identified,understanding when to consider genetic testing has emerged as an important consideration in the management of these *** 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 *** indications for each type of cardiomyopathy are described,along with the limitations of genetic ***,the importance of public sharing of variants in large data sets is *** 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.
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