Chapter

Heritable Cardiomyopathies and Channelopathies: Clinical Presentations, Genetics, and Implications of Genetic Testing

J. Martijn Bos and Michael J. Ackerman

in Mayo Clinic Cardiology

Fourth edition

Published on behalf of © Mayo Foundation for Medical Education and Research

Published in print November 2012 | ISBN: 9780199915712
Published online May 2013 | e-ISBN: 9780199322824 | DOI: http://dx.doi.org/10.1093/med/9780199915712.003.0513

Series: Mayo Clinic Scientific Press

Heritable Cardiomyopathies and Channelopathies: Clinical Presentations, Genetics, and Implications of Genetic Testing

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The field of genetic cardiac diseases has evolved and discoveries along the continuum of research have been translated into clinical practice. Genetic insights have increased our understanding of the heritable cardiomyopathies and channelopathies, enabled identification of preclinical and potentially at-risk family members, and opened the door for considering new therapeutic options. The genomic revolution, however, has also brought with it the need to acquire a new vocabulary to understand the role of genetics and genetic testing in the evaluation and care of patients with these heritable heart diseases. This chapter discusses the clinical presentations, the most important genotype-phenotype relationships, and the implications of genetic testing for clinical practice for some of the most common heritable cardiovascular diseases: hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia.

Chapter.  7807 words.  Illustrated.

Subjects: Cardiovascular Medicine

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