Heart Defects - Isolated

Introduction

• 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 History

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

Medical History

• 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 ass.

Etiology and Natural History

• 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 Inheritance

• 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 Risks

• 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%

Management/Treatment

• 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 diagnosis

• 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 Issues

• 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/ Resources

• Birth defects groups
• Follow up letter

References

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

Notes

The information in this outline was last updated in 2002.