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Genetic Variation and Outcomes in Right Ventricular Congenital Heart Disease

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Right Ventricular Physiology, Adaptation and Failure in Congenital and Acquired Heart Disease

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Abstract

The right ventricle (RV) is exposed to numerous stressors in patients with congenital heart defects. The ability of the RV to adapt to stress is important in maintaining long term structure and function. Genetic factors play an important role in influencing RV adaptation. These include variations in genes involved in hypoxia signaling, metabolic regulation and neurohormonal regulation. Variants in these genes influence the RV response to hypoxia, pressure or volume overload and surgical injury. Knowledge of patient genotype may help identify those at highest risk for adverse RV remodeling and RV failure, and importantly in guiding choice and timing of interventions to preserve RV function.

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Abbreviations

CHD:

Congenital heart disease

HCM:

Hypertrophic cardiomyopathy

HIF1A:

Hypoxia inducible factor 1α

LV:

Left ventricle

RAAS:

Renin-angiotensin-aldosterone system

RV:

Right ventricle

SNP:

Single nucleotide polymorphism

TGFB1:

Transforming growth factor β1

TOF:

Tetralogy of Fallot

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Authors and Affiliations

  1. Paediatric Cardiology, The Hospital for Sick Children, 555 University Ave, Toronto, ON, Canada, M5G 1X8

    Seema Mital

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  1. Seema Mital
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Correspondence to Seema Mital .

Editor information

Editors and Affiliations

  1. Paediatric Cardiology, Labatt Family Heart Center Hospital for Sick Children, Toronto, Ontario, Canada

    Mark K. Friedberg

  2. Heart Institute, Cincinnati Children’s Hosp Med Center, Cincinnati, Ohio, USA

    Andrew N. Redington

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Mital, S. (2018). Genetic Variation and Outcomes in Right Ventricular Congenital Heart Disease. In: Friedberg, M., Redington, A. (eds) Right Ventricular Physiology, Adaptation and Failure in Congenital and Acquired Heart Disease. Springer, Cham. https://doi.org/10.1007/978-3-319-67096-6_4

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  • DOI: https://doi.org/10.1007/978-3-319-67096-6_4

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-67094-2

  • Online ISBN: 978-3-319-67096-6

  • eBook Packages: MedicineMedicine (R0)

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