The Genetics of Cardiac Disease Associated with Sudden Cardiac Death:: A Paper from the 2011 William Beaumont Hospital Symposium on Molecular Pathology

• Autores: Mark J. Perrin, Michael H. Gollob
• Localización: The Journal of molecular diagnostics, ISSN 1525-1578, Vol. 14, Nº. 5, 2012, págs. 424-436
• Idioma: inglés
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• Resumen

  • Sudden cardiac death due to ventricular arrhythmia most commonly occurs in the setting of coronary artery disease. However, a number of inherited syndromes have now been identified that carry a significant risk of sudden cardiac death and that are disproportionately represented in the young. Arrhythmia in such conditions may result from genetically mediated structural heart disease (eg, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy) or from altered function of cardiac ion channels in the absence of overt structural disease (eg, Brugada syndrome and long QT syndrome). The past 15 years have seen considerable progress in our understanding of the genetic underpinnings of these disorders. With the advent of clinical genetic testing as a routine part of clinical care, a new knowledge base is required of practicing cardiologists and genetic testing facilities, particularly related to the rational ordering of genetic testing and the interpretation of results. This review addresses the latest findings in regard to the genetic causes of inherited syndromes associated with sudden cardiac death and summarizes recently published guidelines for the genetic testing of affected individuals and their families.