Literature DB >> 36262197

Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.

Ju-Hee Lee1,2, Sang Eun Lee3, Myeong-Chan Cho4.   

Abstract

Dilated cardiomyopathy (DCM) is one of the important causes of heart failure (HF). With the rapidly evolving technologies for gene analysis and tremendous advances in knowledge of HF genetics, the importance of genetic testing in DCM is currently highlighted. Several genetic variants causing DCM have been identified and this information is used for diagnosis, risk stratification and family screening of DCM patients. However, there are still several challenges in applying genetic testing to real clinical practice. In this review, we will summarize recent understandings in DCM genetics and provide an evidence-based practical guide to the use of genetic testing for DCM patients.
Copyright © 2022. Korean Society of Heart Failure.

Entities:  

Keywords:  Dilated cardiomyopathy; Genetics

Year:  2021        PMID: 36262197      PMCID: PMC9383343          DOI: 10.36628/ijhf.2021.0024

Source DB:  PubMed          Journal:  Int J Heart Fail        ISSN: 2636-154X


  58 in total

1.  Angiotensin-II type 1 receptor gene polymorphism and long-term survival in patients with idiopathic congestive heart failure.

Authors:  B Andersson; I Blange; C Sylvén
Journal:  Eur J Heart Fail       Date:  1999-12       Impact factor: 15.534

2.  Filamin C: A New Arrhythmogenic Cardiomyopathy-Causing Gene?

Authors:  Domenico Corrado; Alessandro Zorzi
Journal:  JACC Clin Electrophysiol       Date:  2018-04

Review 3.  Evolving concepts in dilated cardiomyopathy.

Authors:  Marco Merlo; Antonio Cannatà; Marco Gobbo; Davide Stolfo; Perry M Elliott; Gianfranco Sinagra
Journal:  Eur J Heart Fail       Date:  2017-12-22       Impact factor: 15.534

4.  Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy: Design and Implementation of the DCM Precision Medicine Study.

Authors:  Daniel D Kinnamon; Ana Morales; Deborah J Bowen; Wylie Burke; Ray E Hershberger
Journal:  Circ Cardiovasc Genet       Date:  2017-12

5.  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

Review 6.  Clinical and genetic issues in familial dilated cardiomyopathy.

Authors:  Emily L Burkett; Ray E Hershberger
Journal:  J Am Coll Cardiol       Date:  2005-04-05       Impact factor: 24.094

Review 7.  Psychological consequences of predictive genetic testing: a systematic review.

Authors:  M Broadstock; S Michie; T Marteau
Journal:  Eur J Hum Genet       Date:  2000-10       Impact factor: 4.246

8.  Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

Authors:  Katharine M Brauch; Margaret L Karst; Kathleen J Herron; Mariza de Andrade; Patricia A Pellikka; Richard J Rodeheffer; Virginia V Michels; Timothy M Olson
Journal:  J Am Coll Cardiol       Date:  2009-09-01       Impact factor: 24.094

9.  Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Authors:  Nadine Norton; Peggy D Robertson; Mark J Rieder; Stephan Züchner; Evadnie Rampersaud; Eden Martin; Duanxiang Li; Deborah A Nickerson; Ray E Hershberger
Journal:  Circ Cardiovasc Genet       Date:  2012-02-15

10.  Titin-truncating variants affect heart function in disease cohorts and the general population.

Authors:  Sebastian Schafer; Antonio de Marvao; Eleonora Adami; Lorna R Fiedler; Benjamin Ng; Ester Khin; Owen J L Rackham; Sebastiaan van Heesch; Chee J Pua; Miao Kui; Roddy Walsh; Upasana Tayal; Sanjay K Prasad; Timothy J W Dawes; Nicole S J Ko; David Sim; Laura L H Chan; Calvin W L Chin; Francesco Mazzarotto; Paul J Barton; Franziska Kreuchwig; Dominique P V de Kleijn; Teresa Totman; Carlo Biffi; Nicole Tee; Daniel Rueckert; Valentin Schneider; Allison Faber; Vera Regitz-Zagrosek; Jonathan G Seidman; Christine E Seidman; Wolfgang A Linke; Jean-Paul Kovalik; Declan O'Regan; James S Ware; Norbert Hubner; Stuart A Cook
Journal:  Nat Genet       Date:  2016-11-21       Impact factor: 38.330

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