Case Study:
AA, a 48-year-old male recently had a thoracic aortic dissection but survived after a long hospital course in a tertiary center. In his discharge plan it was recommended that he seek genetic testing as an outpatient, but he does not follow-up. You have accepted AA into your practice as a new patient. On the initial visit, you obtain a family history that demonstrates a possible familial trait for thoracic aneurysms; AA’s father suffered a thoracic dissection at age 50 and died. Based on his family hx, personal hx, and overall appearance (tall statue, long limbs, and high arched palate) you refer AA to a tertiary center for possible Marfan’s syndrome genetic work-up. Mr. AA agrees to go to the tertiary center for genetic counseling and testing. Genetic testing does reveal that AA has the genetic variant for Marfan syndrome with a mutation of the fibrillin-1 (FBN1) gene. Although he received detailed counseling at the tertiary center, AA still has many questions regarding both how he got the disorder and whether any of his estranged children (x3) or siblings (x5) may have the genetic variant. You discuss the genetic linkage with him and recommend that family members be tested (as the tertiary center had recommended). AA does NOT want his genetic information disclosed to anyone. He is currently not in contact with any family member except a cousin. As a provider, you are uncomfortable with not notifying his family members considering the need for early diagnosis with long-term follow-up and monitoring. There is a family member contact on the chart of a cousin that he still maintains contact with.
write about autonomy and fidelity and how it relates to the patient
