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Heart Defects - Isolated


  • What do you understand about why you are coming to genetics today?
  • What concerns do you have that you would like to have addressed today?
  • What do you hope to get out of this session?

Intake and Family HistoryEdit

  • Update Pedigree
  • Determine if there are any other family members with congenital heart disease

Medical HistoryEdit

  • Update medical history since last seen
  • Determine what surgeries have been done to fix complex heart defect
  • Determine if there have been any other health problems
  • Assess developmental history

Etiology and Natural HistoryEdit

  • Most heart development occurs between the 2nd and 8th weeks of gestation
  • 20-45% of congenital heart defects occur along with other anomalies
  • 10% of congenital heart defects occur as part of a complex syndrome
    • patient has normal chromosomes
    • patient has no deletion 22q (confirmed by FISH)

Prevalence and InheritanceEdit

  • Heart defects occur in 8/1000 live births
  • 90% of congenital heart defects have no known cause
  • isolated heart defects have multifactorial inheritance meaning they are caused by a combination of genes and environment

Recurrence RisksEdit

  • The general population risk is ~1%
  • For parents with one affected child the recurrence risk is between 2-5%
  • For parents of two affected children the recurrence risk is 10-15%


  • Description of specific heart defects
    • Truncus arteriosus
    • Coarctation of the aorta
    • Patent ductus arteriosus
    • VSD
    • ASD
    • Aortic valve stenosis
      • Repair of the defects
    • surgeries that have already been done
    • Procedures still need to be done
      • Long term monitoring of heart function
      • Monitor development
    • Provide services if needed

Prenatal diagnosisEdit

  • Future pregnancies can be evaluated with a level 2 ultrasound to look for heart defects
  • Fetoechocardiogram can also be used to detect heart defects prenatally

Psychosocial IssuesEdit

  • How do you feel about the diagnosis?
  • How are you dealing with the multiple surgeries?
  • Does this affect how you relate to and look at your child?
  • Are other family members aware of the condition?
  • Do you feel this affects you and your child's everyday life?
  • Are you concerned about risks for future children?
  • Reassure that there is nothing that could have been done to prevent this
  • Reassure that this is very common
  • Would you be interested in talking to other families with children with congenital heart defects?

Follow - up/ ResourcesEdit

  • Birth defects groups
  • Follow up letter


  • Berini, R. (ed): Clinical Genetics Handbook, Medical Economics Books, 1987.
  • Pierpont, M. and Moller, J. (eds.): Genetics of Cardiovascular Disease. Martinus Nijhoff, 1987.


The information in this outline was last updated in 2002.

This material has been imported fom the wikibook "Genetic counseling"[] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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