Literature DB >> 11080752

Cardiac findings in 31 patients with Noonan's syndrome.

D R Bertola1, C A Kim, S M Sugayama, L M Albano, J Wagenführ, R L Moysés, C H Gonzalez.   

Abstract

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients.
METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and Doppler echocardiography.
RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80% of these patients.
CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease.

Entities:  

Mesh:

Year:  2000        PMID: 11080752     DOI: 10.1590/s0066-782x2000001100005

Source DB:  PubMed          Journal:  Arq Bras Cardiol        ISSN: 0066-782X            Impact factor:   2.000


  12 in total

1.  Noonan syndrome: clinical aspects and molecular pathogenesis.

Authors:  M Tartaglia; G Zampino; B D Gelb
Journal:  Mol Syndromol       Date:  2010-01-15

2.  Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

Authors:  Ellen A Croonen; Willy M Nillesen; Kyra E Stuurman; Gretel Oudesluijs; Ingrid M B M van de Laar; Liesbeth Martens; Charlotte Ockeloen; Inge B Mathijssen; Marga Schepens; Martina Ruiterkamp-Versteeg; Hans Scheffer; Brigitte H W Faas; Ineke van der Burgt; Helger G Yntema
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

3.  Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment.

Authors:  Léa Linglart; Bruce D Gelb
Journal:  Am J Med Genet C Semin Med Genet       Date:  2020-02-05       Impact factor: 3.908

Review 4.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

5.  A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

Authors:  Kunihiko Takahashi; Shigetoyo Kogaki; Shunji Kurotobi; Sayaka Nasuno; Makiko Ohta; Hitomi Okabe; Kazuko Wada; Norio Sakai; Masako Taniike; Keiichi Ozono
Journal:  Eur J Pediatr       Date:  2005-05-12       Impact factor: 3.183

6.  Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

Authors:  E A Croonen; W Nillesen; C Schrander; M Jongmans; H Scheffer; C Noordam; J M T Draaisma; I van der Burgt; H G Yntema
Journal:  Mol Syndromol       Date:  2013-05-08

7.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

8.  Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

Authors:  R Raaijmakers; C Noordam; J A Noonan; E A Croonen; C J A M van der Burgt; J M T Draaisma
Journal:  Eur J Pediatr       Date:  2008-02-13       Impact factor: 3.183

9.  Do you know this syndrome? Noonan syndrome.

Authors:  Rogerio Nabor Kondo; Ligia Márcia Mario Martins; Vivian Cristina Holanda Lopes; Rodrigo Antonio Bittar; Fernanda Mendes Araújo
Journal:  An Bras Dermatol       Date:  2013 Jul-Aug       Impact factor: 1.896

10.  Tumor development in three patients with Noonan syndrome.

Authors:  Helen Fryssira; George Leventopoulos; Stavroula Psoni; Sophia Kitsiou-Tzeli; Nikolaos Stavrianeas; Emmanuel Kanavakis
Journal:  Eur J Pediatr       Date:  2007-12-05       Impact factor: 3.183

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