Paeds Cases · genetics-dysmorphology-and-metabolism
Counsel a young woman with Marfan syndrome who wishes to conceive — OSCE
OSCE communication and shared decision-making station: counselling a young woman with Marfan syndrome and an aortic root of 4.4 cm who wishes to conceive, on the risk of pregnancy-related dissection, the role of pre-pregnancy valve-sparing root repair, beta-blockade and a planned delivery, reproductive options including cascade testing, and a strengths-based framing that addresses fear without dismissing it.
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You have eight minutes to counsel a 19-year-old woman with Marfan syndrome whose aortic root measures 4.4 cm and who wishes to conceive. Use a structured, honest, empathic, strengths-based approach. Her beta-blocker is continued, her ophthalmology and orthopaedic reviews are current, and her partner is with her. [1] [3]
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- [1]Dietz H FBN1-related Marfan syndrome. GeneReviews, 1993.PMID 20301510
- [2]Lacro RV, Dietz HC, Sleeper LA, Yetman AT, Bradley TJ, Colan SD, et al. Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med, 2014.PMID 25405392
- [3]Isselbacher EM, Preventza O, Hamilton Black I, Augoustides JG, Beck AW, Bolen MA, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: a report of the American Heart Association. Circulation, 2022.PMID 36322642