Ehlers-Danlos syndrome type IV or vascular: coronary aneurysms in a 37-year-old patient without cardiovascular risk factors
DOI:
https://doi.org/10.32818/%20reccmi.a5n1a6Keywords:
Ehlers-Danlos syndrome, hyperlaxity, beighton score, coronary aneurysms, aneurysmal rupture.Abstract
Ehlers-Danlos syndrome is a group of inherited connective tissue disorders characterized by joint hypermobi-lity, skin hyperextensibility and tissue fragility. We present a 37 year-old woman who goes to the emergency department for nonspecific chest pain. As background, she presented massive hemoperitoneum after aneu-rysmal rupture of splenic hilum in the third trimester of pregnancy, four years before the current episode. The examination highlighted joint hyperlaxity and in the imaging tests the presence of multiple aneurysms in different locations, including coronary aneurysms. She was diagnosed with Ehlers-Danlos syndrome type IV or vascular after identifying a mutation in COL3A, a gene that encodes the precursor protein of type III procollagen.
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Copyright (c) 2020 Patricia Martín-Moyano-Cuevas, Cristian Hilario Gómez-Torrijos, Estrella Blasco-García, Amparo Blasco-Claramunt, Irene Bonig-Trigueros
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