Literature DB >> 18221620

The genetics of cardiomyopathies: what clinicians should know.

Rahul Deo1, Calum A MacRae.   

Abstract

Primary myocardial diseases, or cardiomyopathies, affect millions of individuals worldwide. Although there are sizable environmental contributors to the etiology of these diseases, many cardiomyopathies have a high degree of heritability and, thus, genetic aspects of diagnosis and therapy warrant special consideration. The past two decades have seen enormous progress in elucidating the epidemiology, genetic architecture, and pathophysiology of these diseases. In this review, we focus on translating advances in the genetics of cardiomyopathies to clinical care. We discuss the underlying genetic and phenotypic complexity of these disorders, highlighting the implications for diagnosis, treatment, screening, and prognosis of patients and their family members.

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Year:  2007        PMID: 18221620     DOI: 10.1007/s11897-007-0017-2

Source DB:  PubMed          Journal:  Curr Heart Fail Rep        ISSN: 1546-9530


  52 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.  Predictors of appropriate implantable defibrillator therapies in patients with arrhythmogenic right ventricular dysplasia.

Authors:  Jonathan P Piccini; Darshan Dalal; Ariel Roguin; Chandra Bomma; Alan Cheng; Kalpana Prakasa; Jun Dong; Crystal Tichnell; Cynthia James; Stuart Russell; Jane Crosson; Ronald D Berger; Joseph E Marine; Gordon Tomaselli; Hugh Calkins
Journal:  Heart Rhythm       Date:  2005-11       Impact factor: 6.343

Review 3.  Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy.

Authors:  L Mestroni; B Maisch; W J McKenna; K Schwartz; P Charron; C Rocco; F Tesson; A Richter; A Wilke; M Komajda
Journal:  Eur Heart J       Date:  1999-01       Impact factor: 29.983

4.  Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  J Peter van Tintelen; Mark M Entius; Zahurul A Bhuiyan; Roselie Jongbloed; Ans C P Wiesfeld; Arthur A M Wilde; Jasper van der Smagt; Ludolf G Boven; Marcel M A M Mannens; Irene M van Langen; Robert M W Hofstra; Luuk C Otterspoor; Pieter A F M Doevendans; Luz-Maria Rodriguez; Isabelle C van Gelder; Richard N W Hauer
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

5.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.

Authors:  Barry J Maron; Jeffrey A Towbin; Gaetano Thiene; Charles Antzelevitch; Domenico Corrado; Donna Arnett; Arthur J Moss; Christine E Seidman; James B Young
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

Review 6.  Arrhythmogenic right-ventricular dysplasia/cardiomyopathy.

Authors:  Hugh Calkins
Journal:  Curr Opin Cardiol       Date:  2006-01       Impact factor: 2.161

7.  Prevalence of right ventricular dysplasia-cardiomyopathy in a non-referral hospital.

Authors:  Stefan Peters; Martina Trümmel; Werner Meyners
Journal:  Int J Cardiol       Date:  2004-12       Impact factor: 4.164

8.  Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.

Authors:  Barbara Bauce; Cristina Basso; Alessandra Rampazzo; Giorgia Beffagna; Luciano Daliento; Gianfranco Frigo; Sandro Malacrida; Luca Settimo; GianAntonio Danieli; Gaetano Thiene; Andrea Nava
Journal:  Eur Heart J       Date:  2005-06-07       Impact factor: 29.983

9.  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

10.  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

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  1 in total

1.  [Familial predisposition and microbial etiology in dilated cardiomyopathy].

Authors:  Sabine Pankuweit; Anette Richter; Volker Ruppert; Bernhard Maisch
Journal:  Herz       Date:  2009-03       Impact factor: 1.443

  1 in total

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