MUTATIONS IN SMOOTH MUSCLE AORTIC ALPHA-ACTIN GENE ARE ASSOCIATED WITH FAMILIAL THORACIC AORTIC ANEURYSM AND DISSECTION

Extravascular traits were found in different organs/systems: ocular (iris flocculi 6; iris hypoplasia 3; myopia 10; retinal detachment 1; maculopathy 1); skeletal (pes planus 6; scoliosis 6; pectus excavatum 1); we also observed 11 different comorbidities including Patent Ductus Arteriosus (PDA), Pa...

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Bibliographic Details
Published in:Journal of the American College of Cardiology 2015-03, Vol.65 (10), p.A2060-A2060
Main Authors: Narula, Nupoor, Disabella, Eliana, Favalli, Valentina, Serio, Alessandra, Grasso, Maurizia, Giorgianni, Carmelina, Fiantanese, Tonia, Kodama, Takahide, Arbustini, Eloisa
Format: Article
Language:English
Subjects:
Aneurysms
Cardiology
Cardiovascular
Dissection
Internal Medicine
Mutation
Smooth muscle
Online Access:Get full text
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Summary:Extravascular traits were found in different organs/systems: ocular (iris flocculi 6; iris hypoplasia 3; myopia 10; retinal detachment 1; maculopathy 1); skeletal (pes planus 6; scoliosis 6; pectus excavatum 1); we also observed 11 different comorbidities including Patent Ductus Arteriosus (PDA), Patent Foramen Ovale (PFO), Livedo reticularis, varicose veins, hearing loss, breast cancer, renal cancer, polycystic ovary syndrome, minimal change nephropathy, Celiac disease, psoriasis.
ISSN:0735-1097
1558-3597
DOI:10.1016/S0735-1097(15)62060-5