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Published on: February 11, 2022
A unique cardiovascular presentation of Marfan syndrome
Andrea Otero Luna1, Kaylee B Park2, Jenna Schauer3
1Division of Pediatric Critical Care, Department of Pediatrics, Seattle Children's Hospital and University of Washington School of Medicine, Seattle, Washington, USA.
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.
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