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Molecular Pathways and Animal Models of Semilunar Valve and Aortic Arch Anomalies

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Congenital Heart Diseases: The Broken Heart

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Abstract

The great arteries of the vertebrate carry blood from the heart to the systemic circulation and are derived from the pharyngeal arch arteries. In higher vertebrates, the pharyngeal arch arteries are a symmetrical series of blood vessels that rapidly remodel during development to become the asymmetric aortic arch arteries carrying oxygenated blood from the left ventricle via the outflow tract. At the base of the aorta, as well as the pulmonary trunk, are the arterial, or semilunar, valves. These valves each have three leaflets and prevent the backflow of blood into the heart. During development, the process of aortic arch and valve formation may go wrong, resulting in cardiovascular defects, and these may, at least in part, be caused by genetic mutations. In this chapter, we will review models harbouring genetic mutations that result in cardiovascular defects affecting the great arteries and the arterial valves.

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Acknowledgements

The authors are grateful to Dr. Alberto Briones-Leon for performing the embryo ink injections and to Prof. Robert Anderson, Prof. Helen Arthur and Dr. Gavin Richardson for critically reading the manuscript. SDB is the recipient of a British Heart Foundation Intermediate Basic Science Research Fellowship. A-LJ was funded by a British Heart Foundation PhD Studentship.

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Authors and Affiliations

  1. Institute of Genetic Medicine, Newcastle University, Newcastle, UK

    Amy-Leigh Johnson & Simon D. Bamforth

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  1. Amy-Leigh Johnson
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  2. Simon D. Bamforth
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Correspondence to Simon D. Bamforth .

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Editors and Affiliations

  1. Cardiovascular Genetics, Charité - Universitätsmedizin Berlin , Berlin, Germany

    Silke Rickert-Sperling

  2. Developmental Biology, Inst. of Marseilles, Aix-Marseille Univ. , Marseille, France

    Robert G. Kelly

  3. Dpt. of Pediatrics Div.of Pediatric Card, Mayo Clinic College of Medicine, Rochester, Minnesota, USA

    David J. Driscoll

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Johnson, AL., Bamforth, S.D. (2016). Molecular Pathways and Animal Models of Semilunar Valve and Aortic Arch Anomalies. In: Rickert-Sperling, S., Kelly, R., Driscoll, D. (eds) Congenital Heart Diseases: The Broken Heart. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1883-2_42

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