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Chromosomal Anomalies Associated with Congenital Heart Disease

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Pediatric and Congenital Cardiology, Cardiac Surgery and Intensive Care

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Abstract

For medical practitioners who care for children with congenital heart disease, it is very evident that chromosomal disorders are commonly associated with heart defects. In fact, chromosomal disorders account for up to 10–12 % of cases presenting with cardiac disease in infants, and overall, genetic syndromes may account for 20 % [Hartman et al. (Pediatr Cardiol 32:1147–1157, 2011), Goldmuntz et al. (Congenit Heart Dis 6:592–602, 2011), Pierpont et al. (Circulation 115:3015–3038, 2007)]. Down syndrome is the most common chromosomal cause of congenital heart disease, followed by Turner syndrome, trisomy 18, and the 22q.11.2 deletion syndromes. This chapter will address the relationship between congenital heart disease (CHD) and chromosomal disorders to familiarize the medical practitioners who care for these patients. We will discuss aspects of the most common chromosomal disorders, including autosomal trisomies, a sex-chromosome anomalies, and microdeletion syndromes. The cardiac practitioner should be able to recognize distinctive features and cardiac lesions associated with these syndromes, appreciate the necessity of a complete medical genetics evaluation, and understand the risk of CHD for a patient with a particular syndrome. The cardiac medical team should be familiar with the outcomes associated with medical, palliative, or corrective treatments, and need for ongoing cardiac surveillance.

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Acknowledgements

Recognition and thanks to Dr. Robert Bone, Donna McDonald-McGinn, and members of the Support Organization For Trisomy (SOFT) for their contributions to this chapter.

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Authors and Affiliations

  1. Children’s Hospital Colorado Anschutz Medical Campus, 13123 East 16th Avenue, Aurora, CO, 80045, USA

    Kathryn C. Chatfield

  2. The Children’s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA

    Matthew A. Deardorff

Authors
  1. Kathryn C. Chatfield
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  2. Matthew A. Deardorff
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Corresponding author

Correspondence to Kathryn C. Chatfield .

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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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Chatfield, K.C., Deardorff, M.A. (2014). Chromosomal Anomalies Associated with Congenital Heart 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_93

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  • DOI: https://doi.org/10.1007/978-1-4471-4619-3_93

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