O. R. Voinescu
Department of Cardiology, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania
A. Ionac
Department of Cardiology, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania; Research Centre of Timisoara Institute of Cardiovascular Diseases, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania; Institute for Cardiovascular Diseases, Gheorghe Adam Street 13A, 3003100041 Timisoara, Romania
R. Sosdean
Department of Cardiology, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania; Research Centre of Timisoara Institute of Cardiovascular Diseases, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania; Institute for Cardiovascular Diseases, Gheorghe Adam Street 13A, 3003100041 Timisoara, Romania
I. Ionac
Department of Cardiology, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania
V. I. Morariu
Department of Semiology, Victor Babes University of Medicine and Pharmacy, 3000041 Timisoara, Romania
M. Puiu
Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy, Victor Babes Eftimie Murgu Sq., 300041 Timisoara, Romania; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children Louis Țurcanu Iosif Nemoianu Street N°2, 300011 Timisoara, Romania
A. Chirita-Emandi
Department of Microscopic Morphology, Genetics Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy, Victor Babes Eftimie Murgu Sq., 300041 Timisoara, Romania; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children Louis Țurcanu Iosif Nemoianu Street N°2, 300011 Timisoara, Romania
Abstract
Background: Genetic testing in cardiomyopathies has a great impact on diagnosis and further management. Considering novel technologies developed for DNA sequencing, it is important to understand the indication and limits of genetic testing available, while taking cost-efficiency into account. Aim: The focus of this review is to summarize the current genetic testing approach in cardiomyopathies in order to determine the best patient pathway in reaching a genetic diagnosis. Methods: For this narrative review, we performed a search of several electronic databases, selected and evaluated relevant manuscripts. Results: Each method of genetic testing in cardiomyopathies was assessed in terms of the diagnosis yield, benefits, limitations and turnaround time. Conclusion: Whether the use of whole exome or genome sequencing can improve the performance of genetic diagnosis in cardiomyopathies over standard custom panels is challenging and needs to be determined in future researches.