Abstract
The causes of heart failure are diverse. Inherited causes represent an important clinical
entity and can be divided into 2 major categories: familial and metabolic cardiomyopathies.
The distinct features that might be present in early disease states can become broadly
overlapping with other diseases, such as in the case of inherited cardiomyopathies
(ie, familial hypertrophic cardiomyopathy or mitochondrial diseases). In this review
article, we focus on genetic issues related to advanced heart failure. Because of
the emerging importance of this topic and its breadth, we sought to focus our discussion
on the known genetic forms of heart failure syndromes, genetic testing, and newer
data on pharmacogenetics and therapeutics in the treatment of heart failure, to primarily
encourage clinicians to place a priority on the diagnosis and treatment of these potentially
treatable conditions.
Résumé
L’étiologie de l’insuffisance cardiaque est variée. Les causes génétiques représentent
une entité clinique importante et peuvent être divisées en deux grandes catégories
: les myocardiopathies familiales et métaboliques. Les caractéristiques distinctives
pouvant se manifester aux stades précoces de la maladie s’apparentent souvent aux
caractéristiques d’autres maladies, comme dans le cas des myocardiopathies génétiques
(c.-à-d. myocardiopathie familiale hypertrophique ou maladie mitochondriale). Dans
le cadre de cet article de synthèse, l’accent sera mis sur les troubles génétiques
associés à l’insuffisance cardiaque de stade avancé. En raison de l’importance émergente
de ce sujet et de son ampleur, nous désirons concentrer la discussion sur les formes
génétiques connues des syndromes d’insuffisance cardiaque, le dépistage génétique,
et les nouvelles données sur la pharmacogénétique et les agents thérapeutiques utilisés
dans le traitement de l’insuffisance cardiaque, principalement pour encourager les
cliniciens à prioriser le diagnostic et le traitement de ces affections pouvant être
traitées.
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Article info
Publication history
Published online: August 21, 2015
Accepted:
July 16,
2015
Received:
May 29,
2015
Footnotes
See page 1346 for disclosure information.
Identification
Copyright
© 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
