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Case Reports
. 2022 Aug;188(8):2443-2447.
doi: 10.1002/ajmg.a.62865. Epub 2022 Jun 9.

A unique cardiovascular presentation of Marfan syndrome

Andrea Otero Luna  1 , Kaylee B Park  2 , Jenna Schauer  3 , Mark Castera  4 , Carolina Quintana Grijalba  1 , Sathish Mallenahalli Chikkabyrappa  3 , Yuen Lie Tjoeng  1 , Erin K Romberg  5 , Aaron Olson  3 , Ian A Glass  6 , Luciana Young  3
Affiliations
Case Reports

A unique cardiovascular presentation of Marfan syndrome

Andrea Otero Luna et al. Am J Med Genet A. 2022 Aug.

Abstract

We report a neonate with severe Marfan syndrome (MS), prenatally identified to have persistent atrial tachycardia, biventricular dysfunction, and an unusual structure within the atria. Detailed postnatal echocardiographic evaluation and cross-sectional imaging confirmed congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa. Emergent testing by next-generation sequencing identified a FBN1 pathological variant, key to establishing goals of care. To our knowledge, this is the first reported case of a congenital pseudoaneurysm of the mitral-aortic intervalvular fibrosa in MS.

Keywords: Marfan syndrome; cardiovascular; mitral-aortic intervalvular fibrosa.

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References

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