Hostname: page-component-7f64f4797f-vhqbp Total loading time: 0 Render date: 2025-11-04T03:11:23.503Z Has data issue: false hasContentIssue false
  • English
  • Français

Bilateral multiple pulmonary arteriovenous fistulas and duplicated renal collecting system in a child with Noonan's syndrome

Published online by Cambridge University Press:  26 February 2007

Evren Semizel ,
Ozlem M. Bostan  and
Halil Saglam
Evren Semizel
Affiliation:
Cardiology Unit, Department of Pediatrics, Uludag University, Faculty of Medicine, Bursa, Turkey
Ozlem M. Bostan
Affiliation:
Cardiology Unit, Department of Pediatrics, Uludag University, Faculty of Medicine, Bursa, Turkey
Halil Saglam
Affiliation:
Endocrinology Unit, Department of Pediatrics, Uludag University, Faculty of Medicine, Bursa, Turkey
Get access Rights & Permissions [Opens in a new window]

Abstract

Noonan's syndrome involves the association of multiple congenital abnormalities, with a variety of cardiac defects. We describe here the association of Noonan's syndrome with multiple pulmonary arteriovenous fistulas and bilateral duplicated renal collecting systems. To the best of our knowledge, this is the first reported case of an association of the Noonan phenotype with pulmonary arteriovenous fistulas.

Keywords

Arteriovenous malformationrenal anomalyNoonan phenotype

Information

Type
Brief Report
Information
Cardiology in the Young , Volume 17 , Issue 2 , April 2007 , pp. 229 - 231
Copyright
© 2007 Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004; 144: 368–374.Google Scholar
Moyer JH, Glantz G. Pulmonary arteriovenous fistulas, physiologic and clinical considerations. Am J Med 1962; 32: 417–435.Google Scholar
Batinica S, Gagro A, Bradic I, Marinovic B. Congenital pulmonary arteriovenous fistula: a rare cause of cyanosis in childhood. Thorac Cardiovasc Surg 1991; 39: 105–106.Google Scholar
Barbe' T, Losay J, Grimon G, et al. Pulmonary arteriovenous shunting in children with liver disease. J Pediatr 1995; 126: 571–579.Google Scholar
Srivastava D, Preminger T, Lock JE, et al. Hepatic venous blood and the development of pulmonary arteriovenous malformations in congenital heart disease. Circulation 1995; 92: 1217–1222.Google Scholar
Kamata S, Kitayama Y, Usui N, et al. Patent ductus venosus with a hypoplastic intrahepatic portal system presenting intrapulmonary shunt: a case treated with banding of the ductus venosus. J Pediatr Surg 2000; 35: 655–657.Google Scholar
Dineen RA, Lenthall RK. Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome. Neuroradiology 2004; 46: 301–305.Google Scholar
Burch M, Sharland M, Shinebourne E, Smith G, Patton M, McKenna W. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 1993; 22: 1189–1192.Google Scholar
Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465–468.Google Scholar
Barker M, Engelhardt W. Bilateral kidney duplication in familial Noonan's syndrome. Clin Pediatr 2001; 40: 241–241.Google Scholar