Syndromes, genetics, and heritable heart disease

Benjamin J. Landis, Matthew T. Lisi

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The field of human genetics has achieved dramatic growth since the publication of the second edition of this textbook. The capabilities of genetic testing technology to interrogate the genome have advanced rapidly, leading to fundamental changes in the way clinicians approach the diagnosis and treatment of many human diseases. One example of this ongoing growth in pediatric intensive care is the adoption of routinely testing infants in the cardiac intensive care unit with chromosomal microarray analysis. This growth has led to improved understanding of the genetic cause of many syndromic diseases and has begun to identify novel disorders based on molecular diagnoses. At the same time, clinical studies have advanced understanding of the clinical implications of genetic diagnoses in the cardiac intensive care unit (ICU). This chapter begins with an overview of the most common syndromes encountered in the pediatric cardiac ICU with a focus on the cardiac and noncardiac factors that influence the clinical course of patients. Next, we explore current approaches to genetic testing in the cardiac ICU and recent contributions of novel genetic testing technologies. Finally, we highlight the complex nature of implementing genetic testing in the ICU and the importance of multidisciplinary approaches that integrate genetic counseling and geneticists with the intensive care team.

Original languageEnglish (US)
Title of host publicationCritical Heart Disease in Infants and Children
PublisherElsevier
Pages892-904.e4
ISBN (Electronic)9781455707607
ISBN (Print)9781455751006
DOIs
StatePublished - Jan 1 2018

Keywords

  • 22q11.2 deletion syndrome
  • Congenital heart disease
  • Genetic syndrome
  • Trisomy 21
  • Turner syndrome

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Syndromes, genetics, and heritable heart disease'. Together they form a unique fingerprint.

  • Cite this

    Landis, B. J., & Lisi, M. T. (2018). Syndromes, genetics, and heritable heart disease. In Critical Heart Disease in Infants and Children (pp. 892-904.e4). Elsevier. https://doi.org/10.1016/B978-1-4557-0760-7.00075-9