Literature DB >> 14676227

From malignant mutations to malignant domains: the continuing search for prognostic significance in the mutant genes causing hypertrophic cardiomyopathy.

S L Van Driest, B J Maron, M J Ackerman.   

Abstract

The genetic causes of hypertrophic cardiomyopathy are diverse and thus present challenges in the development of genetic tests to identify patients at risk

Entities:  

Mesh：

Year:  2004        PMID： 14676227      PMCID： PMC1768027          DOI： 10.1136/heart.90.1.7

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


  16 in total

1.  The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

Authors:  O Havndrup; H Bundgaard; P S Andersen; L A Larsen; J Vuust; K Kjeldsen; M Christiansen
Journal:  Am J Cardiol       Date:  2001-06-01       Impact factor: 2.778

2.  Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.

Authors:  T H Hwang; W H Lee; A Kimura; M Satoh; T Nakamura; M K Kim; S K Choi; J E Park
Journal:  Am J Cardiol       Date:  1998-12-15       Impact factor: 2.778

Review 3.  Hypertrophic cardiomyopathy: a systematic review.

Authors:  Barry J Maron
Journal:  JAMA       Date:  2002-03-13       Impact factor: 56.272

4.  A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

Authors:  M W Consevage; G C Salada; B G Baylen; R L Ladda; P K Rogan
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

5.  Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy.

Authors:  B J Maron; W K Shen; M S Link; A E Epstein; A K Almquist; J P Daubert; G H Bardy; S Favale; R F Rea; G Boriani; N A Estes; P Spirito
Journal:  N Engl J Med       Date:  2000-02-10       Impact factor: 91.245

6.  Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

Authors:  Arthur J Moss; Wojciech Zareba; Elizabeth S Kaufman; Eric Gartman; Derick R Peterson; Jesaia Benhorin; Jeffrey A Towbin; Mark T Keating; Silvia G Priori; Peter J Schwartz; G Michael Vincent; Jennifer L Robinson; Mark L Andrews; Changyong Feng; W Jackson Hall; Aharon Medina; Li Zhang; Zhiqing Wang
Journal:  Circulation       Date:  2002-02-19       Impact factor: 29.690

Review 7.  Molecular genetic studies of familial hypertrophic cardiomyopathy.

Authors:  C E Seidman; J G Seidman
Journal:  Basic Res Cardiol       Date:  1998       Impact factor: 17.165

8.  Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

Authors:  Michael J Ackerman; Sara L VanDriest; Steve R Ommen; Melissa L Will; Rick A Nishimura; A Jamil Tajik; Bernard J Gersh
Journal:  J Am Coll Cardiol       Date:  2002-06-19       Impact factor: 24.094

9.  Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

Authors:  I Rayment; H M Holden; J R Sellers; L Fananapazir; N D Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1995-04-25       Impact factor: 11.205

10.  Sudden cardiac death in hypertrophic cardiomyopathy. Variability in phenotypic expression of beta-myosin heavy chain mutations.

Authors:  A J Marian; A Mares; D P Kelly; Q T Yu; A B Abchee; R Hill; R Roberts
Journal:  Eur Heart J       Date:  1995-03       Impact factor: 29.983
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  5 in total

Review 1.  Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

Authors:  Thomas E Callis; Brian C Jensen; Karen E Weck; Monte S Willis
Journal:  Expert Rev Mol Diagn       Date:  2010-04       Impact factor: 5.225

Review 2.  Risk stratification in hypertrophic cardiomyopathy.

Authors:  S Marrakchi; I Kammoun; E Bennour; L Laroussi; S Kachboura
Journal:  Herz       Date:  2018-04-25       Impact factor: 1.443

3.  ICD Therapy for Primary Prevention in Hypertrophic Cardiomyopathy.

Authors:  Amar Trivedi; Bradley P Knight
Journal:  Arrhythm Electrophysiol Rev       Date:  2016

4.  Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

Authors:  Diego García-Giustiniani; Michael Arad; Martín Ortíz-Genga; Roberto Barriales-Villa; Xusto Fernández; Isabel Rodríguez-García; Andrea Mazzanti; Elena Veira; Emilia Maneiro; Paula Rebolo; Iván Lesende; Laura Cazón; Dov Freimark; Juan Ramón Gimeno-Blanes; Christine Seidman; Jonathan Seidman; William McKenna; Lorenzo Monserrat
Journal:  Heart       Date:  2015-05-02       Impact factor: 5.994

Review 5.  Mendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of Stellenbosch.

Authors:  P A Brink; J C Moolman-Smook; V A Corfield
Journal:  Cardiovasc J Afr       Date:  2009 Jan-Feb       Impact factor: 1.167
  5 in total

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