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 history

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