Psychology Wiki

Genetic counseling: Heart Defects - Isolated

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·

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."

Ad blocker interference detected!

Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki