Literature DB >> 20347791

Clinical screening and genetic testing.

Rahul C Deo1, Calum A MacRae.   

Abstract

Clinical screening is most effective in diseases in which the disease in its earliest form and may not have symptoms or signs but can be readily diagnosed with an inexpensive, noninvasive test. This article discusses the general principles of genetic disease architecture that can guide screening and diagnostic approaches for all of the cardiomyopathies and inherited diseases. It addresses how the genetic architecture of the trait guides, and how clinical characteristics of the disease influence, a clinical screening approach. Copyright (c) 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20347791      PMCID: PMC2874821          DOI: 10.1016/j.hfc.2009.11.002

Source DB:  PubMed          Journal:  Heart Fail Clin        ISSN: 1551-7136            Impact factor:   3.179


  38 in total

1.  Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy.

Authors:  A P Fitzpatrick; L M Shapiro; A F Rickards; P A Poole-Wilson
Journal:  Br Heart J       Date:  1990-02

2.  Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Authors:  Pascale Richard; Philippe Charron; Lucie Carrier; Céline Ledeuil; Theary Cheav; Claire Pichereau; Abdelaziz Benaiche; Richard Isnard; Olivier Dubourg; Marc Burban; Jean-Pierre Gueffet; Alain Millaire; Michel Desnos; Ketty Schwartz; Bernard Hainque; Michel Komajda
Journal:  Circulation       Date:  2003-04-21       Impact factor: 29.690

3.  Sudden death in hypertrophic cardiomyopathy: identification of high risk patients.

Authors:  P M Elliott; J Poloniecki; S Dickie; S Sharma; L Monserrat; A Varnava; N G Mahon; W J McKenna
Journal:  J Am Coll Cardiol       Date:  2000-12       Impact factor: 24.094

4.  Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Authors:  Eloisa Arbustini; Andrea Pilotto; Alessandra Repetto; Maurizia Grasso; Andrea Negri; Marta Diegoli; Carlo Campana; Laura Scelsi; Elisa Baldini; Antonello Gavazzi; Luigi Tavazzi
Journal:  J Am Coll Cardiol       Date:  2002-03-20       Impact factor: 24.094

5.  Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

Authors:  Jens Mogensen; Toru Kubo; Mauricio Duque; William Uribe; Anthony Shaw; Ross Murphy; Juan R Gimeno; Perry Elliott; William J McKenna
Journal:  J Clin Invest       Date:  2003-01       Impact factor: 14.808

6.  Implantable cardioverter-defibrillators in patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  Ariel Roguin; Chandra S Bomma; Khurram Nasir; Harikrishna Tandri; Crystal Tichnell; Cynthia James; Julie Rutberg; Jane Crosson; Philip J Spevak; Ronald D Berger; Henry R Halperin; Hugh Calkins
Journal:  J Am Coll Cardiol       Date:  2004-05-19       Impact factor: 24.094

7.  Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

Authors:  Jan D Marshall; Elizabeth G Hinman; Gayle B Collin; Sebastian Beck; Rita Cerqueira; Pietro Maffei; Gabriella Milan; Weidong Zhang; David I Wilson; Tom Hearn; Purificação Tavares; Roberto Vettor; Caterina Veronese; Mitchell Martin; W Venus So; Patsy M Nishina; Jürgen K Naggert
Journal:  Hum Mutat       Date:  2007-11       Impact factor: 4.878

8.  Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984.

Authors:  M B Codd; D D Sugrue; B J Gersh; L J Melton
Journal:  Circulation       Date:  1989-09       Impact factor: 29.690

9.  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

10.  Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria.

Authors:  M Shoaib Hamid; Mark Norman; Asifa Quraishi; Sami Firoozi; Rajesh Thaman; Juan R Gimeno; Bhavesh Sachdev; Edward Rowland; Perry M Elliott; William J McKenna
Journal:  J Am Coll Cardiol       Date:  2002-10-16       Impact factor: 24.094

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