1.
Am J Med Genet A
; 188(8): 2443-2447, 2022 08.
Article
in English
| MEDLINE
| ID: mdl-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.
Subject(s)
Aneurysm, False , Marfan Syndrome , Aneurysm, False/pathology , Aortic Valve/pathology , Echocardiography , Humans , Infant, Newborn , Marfan Syndrome/complications , Marfan Syndrome/diagnosis , Marfan Syndrome/genetics , Mitral Valve/diagnostic imaging , Mitral Valve/pathology
2.
Crit Care Med
; 50(1): 163-165, 2022 01 01.
Article
in English
| MEDLINE
| ID: mdl-34914649