Literature DB >> 16018289

Genetics and cardiomyopathy: where are we now?

Ross T Murphy1, Randall C Starling.   

Abstract

Many cases of cardiomyopathy have a genetic component: 90% of cases of hypertrophic cardiomyopathy are familial, and genetic factors may be responsible for 30% to 50% of cases of dilated cardiomyopathy. Clinical genetic testing for hypertrophic cardiomyopathy is becoming available, with significant implications for the clinician. This article gives an overview of how these genetic discoveries were made and how these new insights from genetics will affect clinical practice.

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Year:  2005        PMID: 16018289     DOI: 10.3949/ccjm.72.6.465

Source DB:  PubMed          Journal:  Cleve Clin J Med        ISSN: 0891-1150            Impact factor:   2.321


  4 in total

Review 1.  Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors:  Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal:  J Lipid Res       Date:  2011-11-07       Impact factor: 5.922

2.  Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

Authors:  Jacoba J Louw; Ricardo Nunes Bastos; Xiaowen Chen; Céline Verdood; Anniek Corveleyn; Yaojuan Jia; Jeroen Breckpot; Marc Gewillig; Hilde Peeters; Massimo M Santoro; Francis Barr; Koenraad Devriendt
Journal:  PLoS Genet       Date:  2018-01-22       Impact factor: 5.917

Review 3.  Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies.

Authors:  Maria Giovanna Colombo; Nicoletta Botto; Simona Vittorini; Umberto Paradossi; Maria Grazia Andreassi
Journal:  Cardiovasc Ultrasound       Date:  2008-12-19       Impact factor: 2.062

Review 4.  A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.

Authors:  Adrien Moreau; Mohamed Chahine
Journal:  Front Cardiovasc Med       Date:  2018-10-09
  4 in total

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