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World J Cardiol. Jan 26, 2022; 14(1): 29-39
Published online Jan 26, 2022. doi: 10.4330/wjc.v14.i1.29
Role of genetic testing in cardiomyopathies: Α primer for cardiologists
Georgia Vogiatzi, George Lazaros, Evangelos Oikonomou, Emilia Lazarou, Emmanouil Vavuranakis, Dimitris Tousoulis
Georgia Vogiatzi, Emmanouil Vavuranakis, The Third Department of Cardiology, Sotiria Hospital, Athens 11527, Greece
George Lazaros, Emilia Lazarou, Dimitris Tousoulis, The First Department of Cardiology, Hippokration Hospital, Athens 11526, Greece
Evangelos Oikonomou, The First Department of Cardiology, Hippokration Hospital, Medical School of National and Kapodistrian University of Athens, Athens 11527, Greece
Author contributions: All authors contributed to the literature review, data collection and interpretation, and manuscript drafting and revision for important intellectual content; and all authors approved the final version.
Conflict-of-interest statement: The authors declare that there are no conflicts of interest.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Georgia Vogiatzi, PhD, Consultant Physician-Scientist, The Third Department of Cardiology, Sotiria Hospital, Mesogeion 152, Athens 11527, Greece. gvogiatz@yahoo.gr
Received: May 31, 2021
Peer-review started: May 31, 2021
First decision: June 16, 2021
Revised: July 18, 2021
Accepted: January 11, 2022
Article in press: January 11, 2022
Published online: January 26, 2022
Processing time: 232 Days and 20.2 Hours
Abstract

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.

Keywords: Cardiomyopathy; Genetic counselling; Genetic testing; Variant; Hereditary

Core Tip: In a considerable percentage of patients with cardiomyopathies, there is a genetic component. If the presence or severity of the cardiomyopathy cannot be explained by acquired causes, the genetic component should be investigated in order to reveal potential inherited forms of cardiomyopathies. The genetic testing process is also helpful to minimize potential harms and provide suggestions to specialized clinicians who act as a part of a multidisciplinary team, with the objective of offering the best care to families with inherited cardiomyopathies.