Counsel a young woman with Marfan syndrome who wishes to conceive — OSCE

Candidate brief

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]

Key teaching and communication objectives

Acknowledge and validate her fear before delivering information, and allow silence. Explain in plain language that pregnancy increases the workload on the heart and that an aortic root greater than 4.0 cm carries a real risk of a tear (dissection) during pregnancy, which is why the recommendation is to plan rather than to avoid. [3]

Outline the pre-pregnancy plan: an elective operation to replace the dilated root while keeping her own valve (a valve-sparing root replacement) before conception, which substantially lowers the pregnancy risk; continuing beta-blockade through pregnancy because it protects the aorta; close echocardiographic monitoring through pregnancy; and a planned mode and place of delivery with a specialist cardiac-obstetric team and epidural for pain control. Explain that with this plan many women with Marfan syndrome have safe pregnancies, and that the operation is the kind of planned, elective surgery that surveillance is designed to make possible. [1] [3]

Address the online information honestly and with a strengths-based frame: Marfan syndrome does not make her infertile, the root problem is measurable and treatable, and the decision is about timing and planning rather than about whether she can be a parent. Discuss reproductive options including pre-implantation or prenatal testing if she wishes, because there is a one-in-two chance of passing the FBN1 variant to a child, and offer cascade testing of any existing relatives who have not been assessed. [1]

Close with a shared plan and a clear next appointment with the cardiothoracic and maternal-fetal-medicine teams, a connection to a Marfan support organisation, and an open invitation to return with questions. Name her by her name rather than her diagnosis, and frame the conversation around her life and family rather than around risk alone. [2] [3]