Literature DB >> 34153989

Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.

Upasana Tayal1,2, James S Ware1,2,3, Neal K Lakdawala4, Stephane Heymans5,6,7, Sanjay K Prasad1,2.   

Abstract

There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician. We aim to help all clinicians involved in the care of patients with dilated cardiomyopathy to understand the clinical relevance of the genetic basis of dilated cardiomyopathy, introduce key genetic concepts, explain which patients and families may benefit from genetic testing, which genetic tests are commonly performed, how to interpret genetic results, and the clinical applications of results. We conclude by reviewing areas for future research in this dynamic field. Published on behalf of the European Society of Cardiology. All rights reserved.
© The Author(s) 2021. For permissions, please email: journals.permissions@oup.com.

Entities:  

Keywords:  Dilated cardiomyopathy; Genetics; Heart

Mesh：

Year:  2021        PMID： 34153989      PMCID： PMC8216730          DOI： 10.1093/eurheartj/ehab286

Source DB:  PubMed          Journal:  Eur Heart J        ISSN： 0195-668X            Impact factor:   35.855


  61 in total

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Authors:  Swati Choudhry; Kriti Puri; Susan W Denfield
Journal:  Curr Treat Options Cardiovasc Med       Date:  2019-06-25

2.  Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Authors:  D Fatkin; C MacRae; T Sasaki; M R Wolff; M Porcu; M Frenneaux; J Atherton; H J Vidaillet; S Spudich; U De Girolami; J G Seidman; C Seidman; F Muntoni; G Müehle; W Johnson; B McDonough
Journal:  N Engl J Med       Date:  1999-12-02       Impact factor: 91.245

3.  Combinatorial interactions of genetic variants in human cardiomyopathy.

Authors:  Dekker C Deacon; Cassandra L Happe; Chao Chen; Neil Tedeschi; Ana Maria Manso; Ting Li; Nancy D Dalton; Qian Peng; Elie N Farah; Yusu Gu; Kevin P Tenerelli; Vivien D Tran; Ju Chen; Kirk L Peterson; Nicholas J Schork; Eric D Adler; Adam J Engler; Robert S Ross; Neil C Chi
Journal:  Nat Biomed Eng       Date:  2019-02-07       Impact factor: 25.671

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

5.  Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

Authors:  Jan Haas; Stefan Mester; Alan Lai; Karen S Frese; Farbod Sedaghat-Hamedani; Elham Kayvanpour; Tobias Rausch; Rouven Nietsch; Jes-Niels Boeckel; Avisha Carstensen; Mirko Völkers; Carsten Dietrich; Dietmar Pils; Ali Amr; Daniel B Holzer; Diana Martins Bordalo; Daniel Oehler; Tanja Weis; Derliz Mereles; Sebastian Buss; Eva Riechert; Emil Wirsz; Maximilian Wuerstle; Jan O Korbel; Andreas Keller; Hugo A Katus; Andreas E Posch; Benjamin Meder
Journal:  EMBO Mol Med       Date:  2018-01       Impact factor: 12.137

6.  Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Authors:  Lorenzo Alamo; James S Ware; Antonio Pinto; Richard E Gillilan; Jonathan G Seidman; Christine E Seidman; Raúl Padrón
Journal:  Elife       Date:  2017-06-13       Impact factor: 8.140

7.  Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Authors:  Francesco Mazzarotto; Upasana Tayal; Rachel J Buchan; William Midwinter; Alicja Wilk; Nicola Whiffin; Risha Govind; Erica Mazaika; Antonio de Marvao; Timothy J W Dawes; Leanne E Felkin; Mian Ahmad; Pantazis I Theotokis; Elizabeth Edwards; Alexander Y Ing; Kate L Thomson; Laura L H Chan; David Sim; A John Baksi; Antonis Pantazis; Angharad M Roberts; Hugh Watkins; Birgit Funke; Declan P O'Regan; Iacopo Olivotto; Paul J R Barton; Sanjay K Prasad; Stuart A Cook; James S Ware; Roddy Walsh
Journal:  Circulation       Date:  2020-01-27       Impact factor: 29.690

8.  Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Authors:  Rafik Tadros; Catherine Francis; Xiao Xu; Alexa M C Vermeer; Hugh Watkins; Paul M Matthews; James S Ware; Connie R Bezzina; Andrew R Harper; Roy Huurman; Ken Kelu Bisabu; Roddy Walsh; Edgar T Hoorntje; Wouter P Te Rijdt; Rachel J Buchan; Hannah G van Velzen; Marjon A van Slegtenhorst; Jentien M Vermeulen; Joost Allard Offerhaus; Wenjia Bai; Antonio de Marvao; Najim Lahrouchi; Leander Beekman; Jacco C Karper; Jan H Veldink; Elham Kayvanpour; Antonis Pantazis; A John Baksi; Nicola Whiffin; Francesco Mazzarotto; Geraldine Sloane; Hideaki Suzuki; Deborah Schneider-Luftman; Paul Elliott; Pascale Richard; Flavie Ader; Eric Villard; Peter Lichtner; Thomas Meitinger; Michael W T Tanck; J Peter van Tintelen; Andrew Thain; David McCarty; Robert A Hegele; Jason D Roberts; Julie Amyot; Marie-Pierre Dubé; Julia Cadrin-Tourigny; Geneviève Giraldeau; Philippe L L'Allier; Patrick Garceau; Jean-Claude Tardif; S Matthijs Boekholdt; R Thomas Lumbers; Folkert W Asselbergs; Paul J R Barton; Stuart A Cook; Sanjay K Prasad; Declan P O'Regan; Jolanda van der Velden; Karin J H Verweij; Mario Talajic; Guillaume Lettre; Yigal M Pinto; Benjamin Meder; Philippe Charron; Rudolf A de Boer; Imke Christiaans; Michelle Michels; Arthur A M Wilde
Journal:  Nat Genet       Date:  2021-01-25       Impact factor: 41.307

9.  Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Ray E Hershberger; Michael M Givertz; Carolyn Y Ho; Daniel P Judge; Paul F Kantor; Kim L McBride; Ana Morales; Matthew R G Taylor; Matteo Vatta; Stephanie M Ware
Journal:  Genet Med       Date:  2018-06-14       Impact factor: 8.822

10.  Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Authors:  Andre E Minoche; Claire Horvat; Renee Johnson; Velimir Gayevskiy; Sarah U Morton; Alexander P Drew; Kerhan Woo; Aaron L Statham; Ben Lundie; Richard D Bagnall; Jodie Ingles; Christopher Semsarian; J G Seidman; Christine E Seidman; Marcel E Dinger; Mark J Cowley; Diane Fatkin
Journal:  Genet Med       Date:  2018-07-02       Impact factor: 8.822
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  2 in total

1.  Association between comorbid cardiomyopathy and composite endpoints of patients with congestive heart failure in the intensive care unit: a retrospective cohort study.

Authors:  Lifeng Liang; Jiayi Sun; Lizhu Chen; Zejian Li; Wenjuan Zhang
Journal:  J Thorac Dis       Date:  2022-07       Impact factor: 3.005

2.  Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.

Authors:  Hanne M Boen; Bart L Loeys; Maaike Alaerts; Johan B Saenen; Inge Goovaerts; Lut Van Laer; Anne Vorlat; Tom Vermeulen; Constantijn Franssen; Patrick Pauwels; Inez Rodrigus; Hein Heidbuchel; Emeline M Van Craenenbroeck
Journal:  J Heart Lung Transplant       Date:  2022-04-09       Impact factor: 13.569
  2 in total

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