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01-11-2009 | Case Report

A Neonate with Cyanosis and Tortuous Great Arteries

Authors: M. Pilati, G. B. Luciani, M. A. Prioli, G. Puppini

Published in: Pediatric Cardiology | Issue 8/2009

Abstract

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.

Ades LC, Knight WB, Byard RW et al (1996) Clinicopathologic findings in congenital aneurysms of the great vessels. Am J Med Genet 66:289–299CrossRefPubMed

Al Fadley F, Al Manea W, Nykanen DG et al (2000) Severe tortuosity and stenosis of the systemic, pulmonary, and coronary vessels in 12 patients with similar phenotypic features: a new syndrome? Cardiol Young 10:582–589PubMed

Bottio T, Bisleri G, Piccoli P, Muneretto C (2007) Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. J Thorac Cardiovasc Surg 133:252–253CrossRefPubMed

Cartwright MS, Hickling WH, Roach ES (2006) Ischemic stroke in an adolescent with arterial tortuosity syndrome. Neurology 67:360–361CrossRefPubMed

Coucke PJ, Willaert A, Wessels MW et al (2006) Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosisty syndrome. Nat Genet 38:452–457CrossRefPubMed

Franceschini P, Guala A, Licata D, Di Cara G, Franceschini D (2000) Arterial tortuosity syndrome. Am J Med Genet 91:141–143CrossRefPubMed

Golomg MR, Fullerton HJ (2006) Kinky vessels and double joints: useful clues for childhood stroke? Neurology 67:199–200CrossRef

Huang R, Merrilees MJ, Braun K et al (2006) Inhibition of versican synthesis by antisense alters smooth muscle cell phenotype and induces elastic fiber formation in vitro and in neointima after vessel injury. Circ Res 98:370–377CrossRefPubMed

Loeys B, Van Maldergem L, Mortier G et al (2002) Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet 11:2113–2118CrossRefPubMed

10.

Pletcher BA, Fox JE, Boxer RA et al (1996) Four sibs with arterial tortuosity: description and review of the literature. Am J Med Genet 66:121–128CrossRefPubMed

11.

Rivera IR, Gomes L, Moises VA et al (2000) Multiple arterial anomalies in the newborn infant: echocardiographic and angiographic diagnosis. Arq Bras Cardiol 75:137–144CrossRefPubMed

12.

Vicchio M, Santoro G, Carrozza M, Caianiello G (2008) Hybrid approach in a case of arterial tortuosity syndrome. Interact Cardiovasc Thorac Surg 7:736–737CrossRefPubMed

13.

Wessels MW, Catsman-Berrevoets CE, Mancini GM et al (2004) Three new families with arterial tortuosity syndrome. Am J Med Genet 131A:134–143CrossRef

Title: A Neonate with Cyanosis and Tortuous Great Arteries
Authors: M. Pilati
G. B. Luciani
M. A. Prioli
G. Puppini
Publication date: 01-11-2009
Publisher: Springer-Verlag
Published in: Pediatric Cardiology / Issue 8/2009
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-009-9486-2

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