Literature DB >> 19597860

A neonate with cyanosis and tortuous great arteries.

M Pilati1, G B Luciani, M A Prioli, G Puppini.   

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.

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Year:  2009        PMID： 19597860     DOI： 10.1007/s00246-009-9486-2

Source DB:  PubMed          Journal:  Pediatr Cardiol        ISSN： 0172-0643            Impact factor:   1.655


  13 in total

1.  Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?

Authors:  F Al Fadley; W Al Manea; D G Nykanen; A Al Fadley; Z Bulbul; Z Al Halees
Journal:  Cardiol Young       Date:  2000-11       Impact factor: 1.093

2.  Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis.

Authors:  I R Rivera; L Gomes; V A Moisés; C C Silva; J L Andrade; A C Carvalho
Journal:  Arq Bras Cardiol       Date:  2000-08       Impact factor: 2.000

3.  Kinky vessels and double joints: useful clues for childhood stroke?

Authors:  Meredith R Golomb; Heather J Fullerton
Journal:  Neurology       Date:  2006-07-25       Impact factor: 9.910

4.  Ischemic stroke in an adolescent with arterial tortuosity syndrome.

Authors:  Michael S Cartwright; William H Hickling; E Steve Roach
Journal:  Neurology       Date:  2006-07-25       Impact factor: 9.910

5.  Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome.

Authors:  Tomaso Bottio; Gianluigi Bisleri; Paolo Piccoli; Claudio Muneretto
Journal:  J Thorac Cardiovasc Surg       Date:  2007-01       Impact factor: 5.209

6.  Arterial tortuosity syndrome.

Authors:  P Franceschini; A Guala; D Licata; G Di Cara; D Franceschini
Journal:  Am J Med Genet       Date:  2000-03-13

Review 7.  Clinicopathologic findings in congenital aneurysms of the great vessels.

Authors:  L C Adès; W B Knight; R W Byard; J F Bateman; J A Esquivel; R B Mee; E A Haan; D M Milewicz
Journal:  Am J Med Genet       Date:  1996-12-18

8.  Three new families with arterial tortuosity syndrome.

Authors:  Marja W Wessels; Coriene E Catsman-Berrevoets; Grazia M S Mancini; Martijn H Breuning; Jeanette J M Hoogeboom; Hans Stroink; Ingrid Frohn-Mulder; Paul J Coucke; Anne De Paepe; Martinus F Niermeijer; Patrick J Willems
Journal:  Am J Med Genet A       Date:  2004-12-01       Impact factor: 2.802

Review 9.  Four sibs with arterial tortuosity: description and review of the literature.

Authors:  B A Pletcher; J E Fox; R A Boxer; S Singh; D Blumenthal; T Cohen; S Brunson; P Tafreshi; E Kahn
Journal:  Am J Med Genet       Date:  1996-12-11

10.  Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Authors:  Paul J Coucke; Andy Willaert; Marja W Wessels; Bert Callewaert; Nicoletta Zoppi; Julie De Backer; Joyce E Fox; Grazia M S Mancini; Marios Kambouris; Rita Gardella; Fabio Facchetti; Patrick J Willems; Ramses Forsyth; Harry C Dietz; Sergio Barlati; Marina Colombi; Bart Loeys; Anne De Paepe
Journal:  Nat Genet       Date:  2006-03-19       Impact factor: 38.330
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  1 in total

Review 1.  Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Authors:  Marco Ritelli; Nicola Chiarelli; Chiara Dordoni; Elena Reffo; Marina Venturini; Stefano Quinzani; Matteo Della Monica; Gioacchino Scarano; Giuseppe Santoro; Maria Giovanna Russo; Piergiacomo Calzavara-Pinton; Ornella Milanesi; Marina Colombi
Journal:  BMC Med Genet       Date:  2014-11-06       Impact factor: 2.103
  1 in total

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