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- Elizabeth M. McNally
- From the Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL (E.M.M.); and Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora (L.M.).
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- Luisa Mestroni
- From the Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago IL (E.M.M.); and Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora (L.M.).
書誌事項
- タイトル別名
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- Genetic Determinants and Mechanisms
説明
<jats:p>Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.</jats:p>
収録刊行物
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- Circulation Research
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Circulation Research 121 (7), 731-748, 2017-09-15
Ovid Technologies (Wolters Kluwer Health)