Top

Published in:

01-08-2006

Aortic Root Dilatation is a Rare Complication of Noonan Syndrome

Authors: Patricia D. Power, Mark B. Lewin, Mark C. Hannibal, Ian A. Glass

Published in: Pediatric Cardiology | Issue 4/2006

Abstract

Molecular analysis of the gene encoding the protein tyrosine phospatase, nonreceptor type 11 (PTPN11), identified a single base change at nucleotide 228 in an individual manifesting Noonan syndrome with aortic root widening and dysplastic aortic and mitral valves. This missense mutation changes glutamate to aspartate at position 76 of the protein (E76D or Glu76Asp), which likely disrupts intramolecular hydrogen bonding of this protein. There are few reports of aortic root dilatation in Noonan syndrome, and to our knowledge this is the first case with a confirmed PTPN11 mutation.

Allanson JE (1987) Noonan syndrome. J Med Genet 24:9–13PubMedCrossRef

Allanson JE (2003) Noonan syndrome. Gene Reviews 2003. http://www.geneclinics.org

Chen B, Bronson RT, Klaman LD, et al. (2000) Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 24:296–299PubMedCrossRef

Ishizawa A, Oho S, Dodo H, Katori T, Homma SI (1996) Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn 38:84–90PubMed

Jamieson CR, van der Burgt I, Brady AF, et al. (1994) Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet 8:357–360PubMedCrossRef

Kretschmar K, Witkowski R (1982) Dissecting aortic aneurysm in a man with symptoms of Turner’s syndrome. Z Gesamte Inn Med 37:278–281PubMed

Lin AE, Garver KL, Allanson J (1987) Aortic root dilatation in Noonan’s syndrome. N Engl J Med 317:1668–1669PubMedCrossRef

Marino B, Digilio MC, Toscano A, Gianotti A, Dallapiccola B (1999) Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135:703–706PubMedCrossRef

Morgan JM, Coupe MO, Honey M, Miller GA (1989) Aneurysms of the sinuses of Valsalva in Noonan’s syndrome. Eur Heart J 10:190–193PubMed

10.

Musante L, Kehl HG, Majewski F, et al. (2002) Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 11:201–206CrossRef

11.

Patton MA (1994) Noonan syndrome: a review. Growth Genetics Hormones 10:1–3

12.

Roman MJ, Devereux RB, Kramer-Fox R, O’Loughlin J (1989) Two-dimensional echocardiographic aortic root dimensions in normal children and adults. Am J Cardiol 64:507–512PubMedCrossRef

13.

Sarkozy A, Conti E, Seripa D, et al. (2003) Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40:704–708PubMedCrossRef

14.

Shachter N, Perloff JK, Mulder DG (1984) Aortic dissection in Noonan’s syndrome (46 XY turner). Am J Cardiol 54:464–465PubMedCrossRef

15.

Tartaglia M, Kalidas K, Shaw A, et al. (2002) PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype–phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70:1555–1563PubMedCrossRef

16.

Tartaglia M, Mehler EL, Goldberg R, et al. (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465–468PubMedCrossRef

17.

Zenker M, Buheitel G, Rauch R, et al. (2004) Genotype– phenotype correlations in Noonan syndrome. J Pediatr 144:368–374PubMedCrossRef

Title: Aortic Root Dilatation is a Rare Complication of Noonan Syndrome
Authors: Patricia D. Power
Mark B. Lewin
Mark C. Hannibal
Ian A. Glass
Publication date: 01-08-2006
Publisher: Springer-Verlag
Published in: Pediatric Cardiology / Issue 4/2006
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-006-1210-x

ACC 2024 Congress Coverage

Heart Failure Video

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Aortic Root Dilatation is a Rare Complication of Noonan Syndrome

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 4/2006

Upcoming Events in Pediatric Cardiology

Interventional Occlusion of a Thrombosed Aortic Conduit

Tissue Doppler Echocardiography Before and After the Surgical Reconstruction of an Insufficient Mitral Valve in a Patient with Fontan Circulation

The Impact of Fetal Echocardiography on the Prevalence of Liveborn Congenital Heart Disease

Cytokine Response in Children Undergoing Surgery for Congenital Heart Disease

Concordant Ventriculoarterial Connections with Parallel Arterial Trunks in the Setting of Isomerism of the Right Atrial Appendages

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page