Handbook of Genetic Counseling/Heart Defects - Isolated
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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 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%
- Description of specific heart defects
- Truncus arteriosus
- Coarctation of the aorta
- Patent ductus arteriosus
- 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
- 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
- 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.