The Cardiac Center at Joe DiMaggio Children's Hospital
Genetic Counseling
Congenital heart problems can occur at random and without a readily identifiable
cause. Many are unique gene defects, and often they are part of a genetic
syndrome. One factor that helps determine the probability of their occurrence
and possible recurrence in subsequent siblings is the patient’s unique DNA.
“Genetic factors enter into almost all congenital cardiac defects,” says Paul J. Benke, MD, PhD, a medical geneticist on the staff of Joe DiMaggio Children's Hospital and Memorial Hospital West and past director of the clinical genetics program at the University of Miami School of Medicine. “Testing can be critical for patients who have a heart defect and potentially for their relatives.”
For patients and loved ones at the Cardiac Center, genetic counseling can answer questions about the likelihood of developing a disease or passing it on to children. Typically, a counseling session consists of a discussion of the patient’s family tree, a physical examination, and an assessment of the patient’s medical history. Once the results are available, the medical geneticist or counselor can discuss the patient’s prognosis and treatment options.
While some congenital heart problems occur in isolation, others are tied
to genetic disorders that that affect multiple organ systems, such as DiGeorge
Syndrome, Down Syndrome, Marfan Syndrome or Williams Syndrome. For that reason,
many patients with congenital heart problems find it helpful to join support
groups specific to those diseases, as well as the hospital’s own Mended Hearts
support group for patients, family members and caregivers dealing with heart
disease.
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