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Heart failure: advances through genomics

Nature Reviews Genetics volume 12, pages 357–362 (2011)Cite this article

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Abstract

Heart failure is an increasingly prevalent and highly lethal disease that is most often caused by underlying pathologies, such as myocardial infarction or hypertension, but it can also be the result of a single gene mutation. Comprehensive genetic and genomic approaches are starting to disentangle the diverse molecular underpinnings of both forms of the disease and promise to yield much-needed novel diagnostic and therapeutic options for specific subtypes of heart failure.

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Figure 1: Genetic and acquired forms of heart failure induce a common cardiac response.

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Acknowledgements

The authors are grateful to M. van den Hoogenhof for his help in preparing this manuscript and B. Knollmann for critical reading of this manuscript. The authors acknowledge grant support from the Center of Translational Molecular Medicine (CTMM), the European Commission project INHERITANCE, The InterUniversity Cardiology Institute Netherlands (ICIN) and the Netherlands Heart Foundation (NHS).

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Authors and Affiliations

  1. Esther E. Creemers, Arthur A. Wilde and Yigal M. Pinto are at The Heart Failure Research Center, Room K2-120, Academic Medical Center (AMC), Meibergdreef 15, 1105AZ Amsterdam, The Netherlands.,

    Esther E. Creemers, Arthur A. Wilde & Yigal M. Pinto

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  1. Esther E. Creemers
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  2. Arthur A. Wilde
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  3. Yigal M. Pinto
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Correspondence to Yigal M. Pinto.

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Competing interests

Y.M.P. has a minor interest in a spin-off company that has rights relating to the biomarker galectin 3, which is mentioned in this article.

Supplementary information

Supplementary information S1 (table)

Genes linked to Mendelian forms of heart failure. (PDF 265 kb)

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Glossary

Interstitial fibrosis

Excessive deposition and accumulation of extracellular matrix proteins in the cardiac interstitium.

Kabuki syndrome

A rare congenital disorder, named after the facial resemblance of affected individuals to white Kabuki makeup, a Japanese traditional theatrical form. There is a wide range of congenital problems associated with Kabuki syndrome, including heart defects, urinary tract anomalies, hearing loss and postnatal growth deficiency.

Odds ratio

The ratio of the odds of disease between two groups, in which the odds describe the probability of being affected divided by the probability of not being affected.

Peri-partum cardiomyopathy

A rare but often fatal form of dilated cardiomyopathy that is defined as heart failure occurring in the mother in the last months of pregnancy or in the first 6 months after delivery. It occurs in the absence of an identifiable cause, and without demonstrable pre-existing or concurrent heart disease.

Sarcomere

The basic contractile unit of a muscle cell.

Tachyarrhythmias or bradyarrhythmias

An excessively rapid or excessively slow heartbeat of more than 120 or less than 50 beats per minute, respectively.

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Creemers, E., Wilde, A. & Pinto, Y. Heart failure: advances through genomics. Nat Rev Genet 12, 357–362 (2011). https://doi.org/10.1038/nrg2983

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