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-  2019 

Persistent great artery dilatation in Beals syndrome: A novel finding

DOI: 10.4103/apc.APC_8_19

Keywords: Beals syndrome, dilated great arteries, fibrillin-2 mutation

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Abstract:

We report a unique case of dilated aortic root and pulmonary artery in an infant with clinical features consistent with Beals syndrome confirmed to have fibrillin-2 mutation. This case highlights a novel finding of main pulmonary artery dilatation that has not been previously reported with Beals syndrome or fibrillin-2 mutation. In addition, the importance of serial echocardiography and consideration of medical management is discussed

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