The genetics of heart failure

Giuseppe Limongelli and Perry M. Elliott

in Oxford Textbook of Heart Failure

Published on behalf of Oxford University Press

ISBN: 9780199577729
Published online July 2011 | e-ISBN: 9780199697809 | DOI:

Series: Oxford Textbooks

The genetics of heart failure

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Heart failure (HF), defined in its broadest sense as a syndromecharacterized by symptoms and signs of ventricular dysfunction inthe presence of structural and or functional abnormalities of heartfunction, affects millions of people worldwide; in addition, a substantialnumber of individuals have asymptomatic abnormalitiesof heart function that predispose them to symptomatic HF in laterlife. Coronary artery disease and hypertension are by far the most common causes of HF, but a substantial minority of cases arecaused by a heterogeneous group of heart muscle diseases, the cardiomyopathies.These disorders differ in several important respectsfrom other causes of HF in that they are often familial and presentthroughout life. With recent advances in the understanding of themolecular genetics of cardiomyopathies, cardiologists are havingto adapt diagnostic and treatment protocols in order to optimizemanagement of individual patients and their families. In thischapter we review the clinical presentation and pathophysiology ofthe most common monogenic cardiomyopathies and the cardiovascularmanifestations of mutations in the genes controlling therespiratory chain (mitochondrial diseases).

Chapter.  11654 words.  Illustrated.

Subjects: Cardiovascular Medicine

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