A neonate with cyanosis and tortuous great arteries.
This report describes an unusual case with tortuosity of the great vessels in a neonate who presented at birth with cyanosis. The diagnosis was made with magnetic resonance imaging (MRI), then confirmed by genetic analysis.
Pilati
M
M
Department of Cardiology, Ospedale Civile Maggiore, Verona, Italy.
Luciani
G B
GB
Prioli
M A
MA
Puppini
G
G
D001012:Aorta, Abdominal / Q000002:abnormalities*; D001013:Aorta, Thoracic / Q000002:abnormalities*; D017536:Carotid Artery, Common / Q000002:abnormalities*; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics; D003490:Cyanosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D051246:Glucose Transport Proteins, Facilitative / Q000235:genetics; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D013348:Subclavian Artery / Q000002:abnormalities*; D013577:Syndrome; D054079:Vascular Malformations / Q000235:genetics / Q000473:pathology*
D051246:Glucose Transport Proteins, Facilitative; C430746:SLC2A10 protein, human