Handbook of Genetic Counseling/Heart Defects - Isolated

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.