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Genetics of Congenital and Acquired Cardiovascular Disease

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Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care

Abstract

There has been a growing awareness of genetic triggers and associated cardiovascular disease. The genetic basis for heart and vascular conditions is heterogeneous and includes genomic disorders; de novo dominant and familial dominant mutations; autosomal recessive, X-linked, recurrent copy number variations; complex patterns of inheritance; and mitochondrial inheritance. There are more than 100 genes associated with congenital and/or progressive cardiac abnormalities, and the list is expanding at a rapid rate. These recognized genes encode for ion channels, transcription factors, transduction pathways, mitochondrial proteins, enzymes involved in lysosomal activity, and some other functions that are well recognized to cause genomic disorders with cardiovascular involvement. Advances in genetic analysis have had a significant impact on the current practice of cardiovascular medicine in both children and adults, providing a better understanding of the genetic etiologies for these disorders and assisting in defining clinical phenotypes, ongoing management, and offering potential insight into long-term prognosis. In this chapter we provide a description of different conditions that encompass single-gene mutations associated with congenital and acquired cardiovascular disease.

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Authors and Affiliations

  1. Pediatric Cardiology and Adult Cardiovascular Diseases, The Heart Institute, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229-3026, USA

    John L. Jefferies

  2. Department of Pediatrics, University of Texas Medical Branch, 301 University Blvd, Children’s Hospital MC 3.230, Galveston, TX, USA

    Hugo R. Martinez

  3. The Heart Institute, Division of Pediatric Cardiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 45229, USA

    Jeffrey A. Towbin

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  1. John L. Jefferies
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  2. Hugo R. Martinez
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  3. Jeffrey A. Towbin
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Correspondence to John L. Jefferies .

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Editors and Affiliations

  1. Dept. of Pediatric Cardiology, Children's Hospital Colorado, Univ. of Colorado, Denver, Aurora, Colorado, USA

    Eduardo M. Da Cruz

  2. Dept. Pediatric Cardiology, Children's Hospital Colorado, Univ. of Colorado, Denver, Aurora, Colorado, USA

    Dunbar Ivy

  3. Pediatric Cardiac Surgery, Children's Hospital Colorado, Univ. of Colorado, Denver, Aurora, Colorado, USA

    James Jaggers

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Jefferies, J.L., Martinez, H.R., Towbin, J.A. (2014). Genetics of Congenital and Acquired Cardiovascular Disease. In: Da Cruz, E., Ivy, D., Jaggers, J. (eds) Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care. Springer, London. https://doi.org/10.1007/978-1-4471-4619-3_89

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  • DOI: https://doi.org/10.1007/978-1-4471-4619-3_89

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-4618-6

  • Online ISBN: 978-1-4471-4619-3

  • eBook Packages: MedicineReference Module Medicine

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