Curr Cardiol Rep (2017) 19:88 DOI 10.1007/s11886-017-0885-3 INVASIVE ELECTROPHYSIOLOGY AND PACING (EK HEIST, SECTION EDITOR) Genetic Testing in Inherited Heart Diseases: Practical Considerations for Clinicians 1,2 1,3 1,3 Melanie Care & Vijay Chauhan & Danna Spears Springer Science+Business Media, LLC 2017 Abstract their healthcare providers. Given the potential ramifications of Purpose of Review Genetic testing has become an important variant misclassification, expertise in both clinical phenotyp- element in the care of patients with inherited cardiac condi- ing and molecular genetics is imperative in order to provide tions (ICCs). The purpose of this review is to provide clini- accurate diagnosis, management recommendations, and fam- cians with insights into the utility of genetic testing as well as ily risk assessment for this patient population. challenges associated with interpreting results. Recent Findings Genetic testing may be indicated for individ- . Keywords Inherited heart disease Inherited arrhythmia . . . uals who are affected with or who have family histories of syndrome Hereditary cardiomyopathy Genetic testing various ICCs. Various testing options are available and deter- . Next-generation sequencing Variant interpretation mining the most appropriate test for any given clinical scenar- io is key when interpreting results. Newly published guide- lines as well as
Current Cardiology Reports – Springer Journals
Published: Aug 16, 2017
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