Literature DB >> 8624883

Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes.

P T Wilmshurst1, D Katritsis.   

Abstract

A woman with Noonan syndrome had clinical and haemodynamic features of restrictive cardiomyopathy. There was no ventricular hypertrophy on echocardiography but myocardial biopsies showed myocyte hypertrophy without pathological disarray. This case illustrates the overlap of the cardiac phenotypes of Noonan syndrome, restrictive cardiomyopathy, and hypertrophic cardiomyopathy.

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Mesh：

Year:  1996        PMID： 8624883      PMCID： PMC484232          DOI： 10.1136/hrt.75.1.94

Source DB:  PubMed          Journal:  Heart        ISSN： 1355-6037            Impact factor:   5.994


  30 in total

Review 1.  Noonan syndrome: a review.

Authors:  H M Mendez; J M Opitz
Journal:  Am J Med Genet       Date:  1985-07

2.  Probable right ventricular dysplasia and patent foramen ovale presenting with cyanosis and clubbing in a patient with characteristics of Noonan syndrome.

Authors:  P Wilmshurst; P Da Costa
Journal:  Br Heart J       Date:  1995-10

Review 3.  Molecular mechanism of cardiac hypertrophy and failure.

Authors:  I Komuro; Y Yazaki
Journal:  Clin Sci (Lond)       Date:  1994-08       Impact factor: 6.124

4.  Mapping a gene for Noonan syndrome to the long arm of chromosome 12.

Authors:  C R Jamieson; I van der Burgt; A F Brady; M van Reen; M M Elsawi; F Hol; S Jeffery; M A Patton; E Mariman
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

5.  Voluntary muscle involvement in hypertrophic cardiomyopathy. A study of eleven patients.

Authors:  E R Smith; L P Heffernan; V E Sangalang; L M Vaughan; C S Flemington
Journal:  Ann Intern Med       Date:  1976-11       Impact factor: 25.391

6.  Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.

Authors:  J A Terrett; R Newbury-Ecob; G S Cross; I Fenton; J A Raeburn; I D Young; J D Brook
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330

7.  Echocardiographic characterization of the reversible cardiomyopathy of hypothyroidism.

Authors:  A D Santos; R P Miller; P K Mathew; W A Wallace; W T Cave; L Hinojosa
Journal:  Am J Med       Date:  1980-05       Impact factor: 4.965

8.  Incidence of thyroid disease in cases of hypertrophic cardiomyopathy.

Authors:  R Bell; P V Barber; C L Bray; D C Beton
Journal:  Br Heart J       Date:  1978-11

9.  Role of calcium in the induction of cardiac hypertrophy and myofibrillar disarray. Experimental studies of a possible cause of hypertrophic cardiomyopathy.

Authors:  P C Pearcé; C Hawkey; C Symons; E G Olsen
Journal:  Br Heart J       Date:  1985-10

10.  Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

Authors:  H Watkins; W J McKenna; L Thierfelder; H J Suk; R Anan; A O'Donoghue; P Spirito; A Matsumori; C S Moravec; J G Seidman
Journal:  N Engl J Med       Date:  1995-04-20       Impact factor: 91.245
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  3 in total

Review 1.  Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy.

Authors:  Claudia Stöllberger; Josef Finsterer
Journal:  Clin Cardiol       Date:  2007-08       Impact factor: 2.882

2.  Low-dose dasatinib rescues cardiac function in Noonan syndrome.

Authors:  Jae-Sung Yi; Yan Huang; Andrea T Kwaczala; Ivana Y Kuo; Barbara E Ehrlich; Stuart G Campbell; Frank J Giordano; Anton M Bennett
Journal:  JCI Insight       Date:  2016-12-08

Review 3.  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
  3 in total

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