Journal article
A unique cardiovascular presentation of Marfan syndrome
American journal of medical genetics. Part A, Vol.188(8), pp.2443-2447
06/09/2022
DOI: 10.1002/ajmg.a.62865
PMID: 35679177
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.
Details
- Title: Subtitle
- A unique cardiovascular presentation of Marfan syndrome
- Creators
- Andrea Otero Luna - University of Washington School of MedicineKaylee B Park - University of WashingtonJenna Schauer - Seattle Children's HospitalMark Castera - Children's Hospital of PhiladelphiaCarolina Quintana Grijalba - University of Washington School of MedicineSathish Mallenahalli Chikkabyrappa - Seattle Children's HospitalYuen Lie Tjoeng - University of Washington School of MedicineErin K Romberg - Seattle Children's HospitalAaron Olson - Seattle Children's HospitalIan A Glass - University of Washington School of MedicineLuciana Young - Seattle Children's Hospital
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.188(8), pp.2443-2447
- DOI
- 10.1002/ajmg.a.62865
- PMID
- 35679177
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Language
- English
- Date published
- 06/09/2022
- Academic Unit
- Critical Care; Stead Family Department of Pediatrics
- Record Identifier
- 9984353945702771
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