Literature DB >> 26518443

The Rationale and Timing of Molecular Genetic Testing for Dilated Cardiomyopathy.

Ana Morales1, Ray E Hershberger2.   

Abstract

The genetic evaluation of dilated cardiomyopathy (DCM) has been challenging, owing in large part to marked genetic heterogeneity. However, lower costs from next-generation sequencing have enabled gene discovery and the expansion of genetic testing panels. These advances have improved molecular diagnostics and predictive testing in DCM. We provide a rationale and recommendation for clinical genetic testing in all DCM cases.
Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

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Year:  2015        PMID： 26518443      PMCID： PMC5875986          DOI： 10.1016/j.cjca.2015.06.034

Source DB:  PubMed          Journal:  Can J Cardiol        ISSN： 0828-282X            Impact factor:   5.223


  15 in total

1.  The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

Authors:  V V Michels; P P Moll; F A Miller; A J Tajik; J S Chu; D J Driscoll; J C Burnett; R J Rodeheffer; J H Chesebro; H D Tazelaar
Journal:  N Engl J Med       Date:  1992-01-09       Impact factor: 91.245

Review 2.  Where genome meets phenome: rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure.

Authors:  Sanaz Piran; Peter Liu; Ana Morales; Ray E Hershberger
Journal:  J Am Coll Cardiol       Date:  2012-07-24       Impact factor: 24.094

3.  Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Authors:  Evadnie Rampersaud; Jill D Siegfried; Nadine Norton; Duanxiang Li; Eden Martin; Ray E Hershberger
Journal:  Prog Pediatr Cardiol       Date:  2011-01-01

4.  Incidence, causes, and outcomes of dilated cardiomyopathy in children.

Authors:  Jeffrey A Towbin; April M Lowe; Steven D Colan; Lynn A Sleeper; E John Orav; Sarah Clunie; Jane Messere; Gerald F Cox; Paul R Lurie; Daphne Hsu; Charles Canter; James D Wilkinson; Steven E Lipshultz
Journal:  JAMA       Date:  2006-10-18       Impact factor: 56.272

Review 5.  Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

Authors:  Ray E Hershberger; Dale J Hedges; Ana Morales
Journal:  Nat Rev Cardiol       Date:  2013-07-30       Impact factor: 32.419

6.  Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

Authors:  Steven J Kindel; Erin M Miller; Resmi Gupta; Linda H Cripe; Robert B Hinton; Robert L Spicer; Jeffrey A Towbin; Stephanie M Ware
Journal:  J Card Fail       Date:  2012-03-10       Impact factor: 5.712

7.  Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease.

Authors:  M K Baig; J H Goldman; A L Caforio; A S Coonar; P J Keeling; W J McKenna
Journal:  J Am Coll Cardiol       Date:  1998-01       Impact factor: 24.094

8.  Frequency and phenotypes of familial dilated cardiomyopathy.

Authors:  E Grünig; J A Tasman; H Kücherer; W Franz; W Kübler; H A Katus
Journal:  J Am Coll Cardiol       Date:  1998-01       Impact factor: 24.094

9.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

10.  Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline.

Authors:  Ray E Hershberger; Joann Lindenfeld; Luisa Mestroni; Christine E Seidman; Matthew R G Taylor; Jeffrey A Towbin
Journal:  J Card Fail       Date:  2009-03       Impact factor: 5.712
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  8 in total

1.  A missense variant in the titin gene in Doberman pinscher dogs with familial dilated cardiomyopathy and sudden cardiac death.

Authors:  Kathryn M Meurs; Steven G Friedenberg; Justin Kolb; Chandra Saripalli; Paola Tonino; Kathleen Woodruff; Natasha J Olby; Bruce W Keene; Darcy B Adin; Oriana L Yost; Teresa C DeFrancesco; Sunshine Lahmers; Sandra Tou; G Diane Shelton; Henk Granzier
Journal:  Hum Genet       Date:  2019-02-04       Impact factor: 4.132

Review 2.  Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.

Authors:  Teri A Manolio
Journal:  Atherosclerosis       Date:  2016-08-26       Impact factor: 5.162

Review 3.  The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.

Authors:  Ray E Hershberger; Jason Cowan; Elizabeth Jordan; Daniel D Kinnamon
Journal:  Circ Res       Date:  2021-05-13       Impact factor: 17.367

4.  Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

Authors:  Maria Franaszczyk; Przemyslaw Chmielewski; Grazyna Truszkowska; Piotr Stawinski; Ewa Michalak; Malgorzata Rydzanicz; Malgorzata Sobieszczanska-Malek; Agnieszka Pollak; Justyna Szczygieł; Joanna Kosinska; Adam Parulski; Tomasz Stoklosa; Agnieszka Tarnowska; Marcin M Machnicki; Bogna Foss-Nieradko; Malgorzata Szperl; Agnieszka Sioma; Mariusz Kusmierczyk; Jacek Grzybowski; Tomasz Zielinski; Rafal Ploski; Zofia T Bilinska
Journal:  PLoS One       Date:  2017-01-03       Impact factor: 3.240

5.  Breast Cancer Clinical Trial of Chemotherapy and Trastuzumab: Potential Tool to Identify Cardiac Modifying Variants of Dilated Cardiomyopathy.

Authors:  Daniel J Serie; Julia E Crook; Brian M Necela; Bianca C Axenfeld; Travis J Dockter; Gerardo Colon-Otero; Edith A Perez; E Aubrey Thompson; Nadine Norton
Journal:  J Cardiovasc Dev Dis       Date:  2017-05-04

Review 6.  Reverse remodeling in Dilated Cardiomyopathy: Insights and future perspectives.

Authors:  M Merlo; T Caiffa; M Gobbo; L Adamo; G Sinagra
Journal:  Int J Cardiol Heart Vasc       Date:  2018-03-08

7.  A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.

Authors:  Max Catchpool; Jay Ramchand; Melissa Martyn; David L Hare; Paul A James; Alison H Trainer; Josh Knight; Ilias Goranitis
Journal:  Genet Med       Date:  2019-06-20       Impact factor: 8.822

Review 8.  Dilated cardiomyopathy.

Authors:  Heinz-Peter Schultheiss; DeLisa Fairweather; Alida L P Caforio; Felicitas Escher; Ray E Hershberger; Steven E Lipshultz; Peter P Liu; Akira Matsumori; Andrea Mazzanti; John McMurray; Silvia G Priori
Journal:  Nat Rev Dis Primers       Date:  2019-05-09       Impact factor: 65.038
  8 in total

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