Journal of Clinical Medicine Review The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies Nicoleta-Monica Popa-Fotea 1,2 , Cosmin Cojocaru 1, Alexandru Scafa-Udriste 1,2, Miruna Mihaela Micheu 1,* and Maria Dorobantu 1,2 1 Department of Cardiology, Clinical Emergency Hospital of Bucharest, Floreasca Street 8, 014461 Bucharest, Romania;
[email protected] (N.-M.P.-F.);
[email protected] (C.C.);
[email protected] (A.S.-U.);
[email protected] (M.D.) 2 Department 4—Cardiothoracic Pathology, University of Medicine and Pharmacy Carol Davila, Eroii Sanitari Bvd. 8, 050474 Bucharest, Romania * Correspondence:
[email protected]; Tel.: +4-072-245-1755 Received: 8 June 2020; Accepted: 2 July 2020; Published: 4 July 2020 Abstract: Pediatric inherited cardiomyopathies (CMPs) and channelopathies (CNPs) remain important causes of death in this population, therefore, there is a need for prompt diagnosis and tailored treatment. Conventional evaluation fails to establish the diagnosis of pediatric CMPs and CNPs in a significant proportion, prompting further, more complex testing to make a diagnosis that could influence the implementation of lifesaving strategies. Genetic testing in CMPs and CNPs may help unveil the underlying cause, but needs to be carried out with caution given the lack of uniform recommendations in guidelines about the precise time to start the genetic evaluation or the type of targeted testing or whole-genome sequencing. A very diverse etiology and the scarce number of randomized studies of pediatric CMPs and CNPs make genetic testing of these maladies far more particular than their adult counterpart. The genetic diagnosis is even more puzzling if the psychological impact point of view is taken into account.