Cardiomyopathies and Genetic Testing in Heart Failure: Role in Defining Phenotype-Targeted Approaches and Management |
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| Authors: | Haran Yogasundaram Waleed Alhumaid Tara Dzwiniel Susan Christian Gavin Y Oudit |
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| Institution: | 1. Department of Medicine, Division of Cardiology, University of Alberta, Edmonton, Alberta, Canada;2. Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, Alberta, Canada;3. Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada;1. Cardiovascular Medicine, Kaufman Center for Heart Failure, Heart, Vascular and Thoracic Institute, Cleveland Clinic, Cleveland, Ohio, USA;2. Metabolism and Diabetes, Imaging Program, Lawson Health Research Institute and Medical Biophysics, Pathology and Laboratory Medicine, Western University, London, Ontario, Canada;3. Division of Cardiology, Department of Medicine, St Michael''s Hospital, Keenan Research Centre for Biomedical Research, Toronto, Ontario, Canada;1. Department of Medicine, Division of Cardiology, McMaster University, Hamilton, Ontario, Canada;2. Cardiology Postgraduate Program, McMaster University, Hamilton, Ontario, Canada;3. Heart Failure and Transplant Program, Toronto General Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada;4. Department of Cardiology, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands;5. St Vincent Heart Center, Indianapolis, Indiana, USA;6. Duke University Medical Center/Duke Clinical Research Institute, Durham, North Carolina, USA;7. Department of Health Research Methods, Evidence, and Impact, McMaster University, Hamilton, Ontario, Canada;8. Population Health Research Institute, Hamilton, Ontario, Canada;9. Cardiovascular Research Program, Institute for Clinical Evaluative Sciences, McMaster University, Hamilton, Ontario, Canada;1. Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada;2. Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, Alberta, Canada |
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| Abstract: | Cardiomyopathies represent an important cause of heart failure, often affecting young individuals, and have important implications for relatives. Genetic testing for cardiomyopathies is an established care pathway in contemporary cardiology practice. The primary cardiomyopathies where genetic testing is indicated are hypertrophic, dilated, arrhythmogenic, and restrictive cardiomyopathies, with left ventricular noncompaction as a variant phenotype. Early identification and initiation of therapies in patients with inherited cardiomyopathies allow for targeting asymptomatic and presymptomatic patients in stages A and B of the American College of Cardiology/American Heart Association classification of heart failure. The current approach for genetic testing uses gene panel–based testing with the ability to extend to whole-exome and whole-genome sequencing in rare instances. The central components of genetic testing include defining the genetic basis of the diagnosis, providing prognostic information, and the ability to screen and risk-stratify relatives. Genetic testing for cardiomyopathies should be coordinated by a multidisciplinary team including adult and pediatric cardiologists, genetic counsellors, and geneticists, with access to expertise in cardiac imaging and electrophysiology. A pragmatic approach for addressing genetic variants of uncertain significance is important. In this review, we highlight the indications for genetic testing in the various cardiomyopathies, the value of early diagnosis and treatment, family screening, and the care process involved in genetic counselling and testing. |
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