Aortic root dilatation is a rare complication of Noonan syndrome

Pediatric Cardiology

Volumn 27, Issue 4, 2006, Pages 478-480

  Power, Patricia D ^a   Lewin, Mark B ^b   Hannibal, Mark C ^b   Glass, Ian A ^b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Aortic root; Gene; Noonan syndrome; PTPN11

Indexed keywords

ASPARTIC ACID; GLUTAMIC ACID; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE NONRECEPTOR TYPE 11; UNCLASSIFIED DRUG;

AORTA DISEASE; AORTA ROOT; AORTA VALVE DISEASE; AORTIC ROOT DILATATION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DYSPLASIA; FUNNEL CHEST; GENE; GENE SEQUENCE; HUMAN; HYDROGEN BOND; INFANT; MALE; MISSENSE MUTATION; MITRAL VALVE DISEASE; NOONAN SYNDROME; NUCLEIC ACID BASE SUBSTITUTION; PIGEON THORAX; PTPN11 GENE; SEQUENCE ANALYSIS; SYMPTOM;

AORTIC DISEASES; AORTIC VALVE INSUFFICIENCY; CHILD; DILATATION, PATHOLOGIC; ECHOCARDIOGRAPHY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MITRAL VALVE PROLAPSE; MUTATION, MISSENSE; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTEIN TYROSINE PHOSPHATASES; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE ANALYSIS, DNA;

EID: 33747144981     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-006-1210-x     Document Type: Article

References (17)

1. Allanson JE (1987) Noonan syndrome. J Med Genet 24:9-13
2. Allanson JE (2003) Noonan syndrome. Gene Reviews 2003. www.geneclinics.org
3. Chen B, Bronson RT, Klaman LD, et al. (2000) Mice mutant for Egfr and Shp2 have defective cardiac semilunar valvulogenesis. Nat Genet 24:296-299
4. Ishizawa A, Oho S, Dodo H, Katori T, Homma SI (1996) Cardiovascular abnormalities in Noonan syndrome: the clinical findings and treatments. Acta Paediatr Jpn 38:84-90
5. 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 8:357-360
6. Kretschmar K, Witkowski R (1982) Dissecting aortic aneurysm in a man with symptoms of Turner's syndrome. Z Gesamte Inn Med 37:278-281
7. Lin AE, Garver KL, Allanson J (1987) Aortic root dilatation in Noonan's syndrome. N Engl J Med 317:1668-1669
8. 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 135:703-706
9. Morgan JM, Coupe MO, Honey M, Miller GA (1989) Aneurysms of the sinuses of Valsalva in Noonan's syndrome. Eur Heart J 10:190-193
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 11:201-206
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 64:507-512
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 40:704-708
14. Shachter N, Perloff JK, Mulder DG (1984) Aortic dissection in Noonan's syndrome (46 XY turner). Am J Cardiol 54:464-465
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 70:1555-1563
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 29:465-468
17. Zenker M, Buheitel G, Rauch R, et al. (2004) Genotype-phenotype correlations in Noonan syndrome. J Pediatr 144:368-374