Literature DB >> 25716036

Prolapse of all cardiac valves in Noonan syndrome.

Adikesava Naidu Otikunta1, Y V Subbareddy1, Praneeth Polamuri1, Ashok Thakkar2.   

Abstract

Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with prolapse of all four cardiac valves after 22 years of uneventful survival. 2015 BMJ Publishing Group Ltd.

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Year:  2015        PMID: 25716036      PMCID: PMC4342631          DOI: 10.1136/bcr-2014-207241

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  10 in total

1.  Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

Authors:  Yoko Aoki; Tetsuya Niihori; Toshihiro Banjo; Nobuhiko Okamoto; Seiji Mizuno; Kenji Kurosawa; Tsutomu Ogata; Fumio Takada; Michihiro Yano; Toru Ando; Tadataka Hoshika; Christopher Barnett; Hirofumi Ohashi; Hiroshi Kawame; Tomonobu Hasegawa; Takahiro Okutani; Tatsuo Nagashima; Satoshi Hasegawa; Ryo Funayama; Takeshi Nagashima; Keiko Nakayama; Shin-Ichi Inoue; Yusuke Watanabe; Toshihiko Ogura; Yoichi Matsubara
Journal:  Am J Hum Genet       Date:  2013-06-20       Impact factor: 11.025

2.  Ectatic coronary arteries in Noonan syndrome.

Authors:  Gurpreet Singh Gulati; Ashish Gupta; Rajnish Juneja; Anita Saxena
Journal:  Tex Heart Inst J       Date:  2011

3.  Further evidence of the importance of RIT1 in Noonan syndrome.

Authors:  Débora R Bertola; Guilherme L Yamamoto; Tatiana F Almeida; Michelle Buscarilli; Alexander A L Jorge; Alexsandra C Malaquias; Chong A Kim; Vanessa N V Takahashi; Maria Rita Passos-Bueno; Alexandre C Pereira
Journal:  Am J Med Genet A       Date:  2014-08-13       Impact factor: 2.802

4.  2014 AHA/ACC guideline for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines.

Authors:  Rick A Nishimura; Catherine M Otto; Robert O Bonow; Blase A Carabello; John P Erwin; Robert A Guyton; Patrick T O'Gara; Carlos E Ruiz; Nikolaos J Skubas; Paul Sorajja; Thoralf M Sundt; James D Thomas
Journal:  J Am Coll Cardiol       Date:  2014-03-03       Impact factor: 24.094

5.  Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

Authors:  Monika Gos; Somayyeh Fahiminiya; Jarosław Poznański; Jakub Klapecki; Ewa Obersztyn; Małgorzata Piotrowicz; Jolanta Wierzba; Renata Posmyk; Jerzy Bal; Jacek Majewski
Journal:  Am J Med Genet A       Date:  2014-06-17       Impact factor: 2.802

6.  Clinical and molecular studies in a large Dutch family with Noonan syndrome.

Authors:  I van der Burgt; E Berends; E Lommen; S van Beersum; B Hamel; E Mariman
Journal:  Am J Med Genet       Date:  1994-11-01

7.  Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Authors:  Peng-Chieh Chen; Jiani Yin; Hui-Wen Yu; Tao Yuan; Minerva Fernandez; Christina K Yung; Quang M Trinh; Vanya D Peltekova; Jeffrey G Reid; Erica Tworog-Dube; Margaret B Morgan; Donna M Muzny; Lincoln Stein; John D McPherson; Amy E Roberts; Richard A Gibbs; Benjamin G Neel; Raju Kucherlapati
Journal:  Proc Natl Acad Sci U S A       Date:  2014-07-21       Impact factor: 11.205

8.  Atrio-ventricular valve dysplasia in 22 newborn infants.

Authors:  D Bonnet; A Saygili; P Bonhoeffer; L Fermont; D Sidi; J Kachaner
Journal:  Int J Cardiol       Date:  1997-04-18       Impact factor: 4.164

9.  Unusual combination of congenital heart defects in an infant with Noonan syndrome.

Authors:  L R Feit; K Hansen; C E Oyer; J C Werner
Journal:  Pediatr Cardiol       Date:  1995 Mar-Apr       Impact factor: 1.655

Review 10.  Noonan syndrome.

Authors:  Ineke van der Burgt
Journal:  Orphanet J Rare Dis       Date:  2007-01-14       Impact factor: 4.123

  10 in total
  1 in total

1.  Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.

Authors:  Dena R Matalon; David A Stevenson; Elizabeth J Bhoj; Avni B Santani; Beth Keena; Meryl S Cohen; Angela E Lin; Sarah E Sheppard; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2021-03-08       Impact factor: 2.802

  1 in total

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