
Marfan syndrome is an autosomal dominant, connective tissue disorder. Because it’s autosomal dominant, an affected parent has a 50% chance of passing the genetic mutation to their offspring in every pregnancy. Approximately 25% of cases actually stem from spontaneous, de novo mutations with no prior family history. In the United States, the prevalence of Marfan syndrome is estimated at roughly 1 in 5,000 individuals. It affects males and females equally across all ethnic backgrounds. Although this topic and condition might sound rare at first glance- Marfan syndrome in pregnancy- it is in our communities, and we need to be ready for the potential complications that come with it. When is vaginal delivery allowable here? Do these patients need any maintenance meds during pregnancy? What about postpartum surveillance? Grab your coffee, get comfortable, and let's jump right in!
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2. Milleron O, Arnoult F, Delorme G, et al. Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome. J Am Coll Cardiol. 2020 Mar 3;75(8):843-853.
3. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol. 2022 Dec 13;80(24):e223-e393.
4. Narula N. et al. Pregnancy-Related Aortic Complications in Women With Marfan Syndrome. J Am Coll Cardiol. 2021 Aug 31;78(9):870-879.
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