Literature DB >> 126823

Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Report of two cases.

H D Hirsch, H Gelband, O Garcia, S Gottlieb, D M Tamer.   

Abstract

Two patients with hypertrophic obstructive cardiomyopathy and Noonan's syndrome are presented. Both patients were found at postmortem examination to have gross malformation of the mitral valve and obliteration of the left ventricle due to muscle hypertrophy. Each case demonstrated similar clinical, echocardiographic, and angiographic findings. The poor response to medical and surgical therapy are noted.

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Year:  1975        PMID： 126823     DOI： 10.1161/01.cir.52.6.1161

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


  13 in total

1.  PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".

Authors:  M Cristina Digilio; Anna Sarkozy; Giuseppe Pacileo; Giuseppe Limongelli; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2006-05-30       Impact factor: 3.183

2.  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

3.  Noonan syndrome: structural abnormalities of the mitral valve causing subaortic obstruction.

Authors:  B Marino; M G Gagliardi; M C Digilio; B Polletta; S Grazioli; D Agostino; A Giannotti; B Dallapiccola
Journal:  Eur J Pediatr       Date:  1995-12       Impact factor: 3.183

4.  Cardiovascular malformations in Turner's and Noonan's syndrome.

Authors:  L G Van der Hauwaert; J P Fryns; M Dumoulin; N Logghe
Journal:  Br Heart J       Date:  1978-05

Review 5.  Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management.

Authors:  Angela E Lin; Craig T Basson; Elizabeth Goldmuntz; Pilar L Magoulas; Deborah A McDermott; Donna M McDonald-McGinn; Elspeth McPherson; Colleen A Morris; Jacqueline Noonan; Catherine Nowak; Mary Ella Pierpont; Reed E Pyeritz; Alan F Rope; Elaine Zackai; Barbara R Pober
Journal:  Genet Med       Date:  2008-07       Impact factor: 8.822

6.  Hypertrophic obstructive cardiomyopathy as a manifestation of a cardiocutaneous syndrome (Noonan syndrome).

Authors:  G Pongratz; M Friedrich; M Unverdorben; B Kunkel; K Bachmann
Journal:  Klin Wochenschr       Date:  1991-12-11

7.  Unusual combination of congenital heart lesions in a child with Noonan's syndrome.

Authors:  J Lam; A Corno; H W Oorthuys; C Marcelletti
Journal:  Pediatr Cardiol       Date:  1982       Impact factor: 1.655

8.  Myxomatous degeneration of the mitral valve in a child with Turner syndrome and partial anomalous pulmonary venous return.

Authors:  P Lebecque; G Bosi; J Lintermans; M Stijns; J Germanes; C H Chalant; A Vliers
Journal:  Eur J Pediatr       Date:  1984-02       Impact factor: 3.183

9.  Costello syndrome: clinical diagnosis in the first year of life.

Authors:  M Cristina Digilio; Anna Sarkozy; Rossella Capolino; M Beatrice Chiarini Testa; Giorgia Esposito; Andrea de Zorzi; Renato Cutrera; Bruno Marino; Bruno Dallapiccola
Journal:  Eur J Pediatr       Date:  2007-08-29       Impact factor: 3.183

10.  Myocardial disarray in Noonan syndrome.

Authors:  M Burch; J M Mann; M Sharland; E A Shinebourne; M A Patton; W J McKenna
Journal:  Br Heart J       Date:  1992-12
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