Literature DB >> 29525642

Genetic Testing for Cardiomyopathies in Clinical Practice.

Jodie Ingles1, Richard D Bagnall2, Christopher Semsarian3.   

Abstract

Cardiac genetic testing for inherited cardiomyopathies has become a routine aspect of care. Advances in genetic testing technologies have made testing more comprehensive and affordable. With this increase come greater understanding of the genetic basis of these diseases, but also shines a light on the challenges. Ability to ascertain whether a rare variant is causative of disease is problematic. A genetic diagnosis in a family can offer an invaluable tool for cascade genetic testing of at-risk relatives and avenues for reproductive testing options. A careful approach to cardiac genetic testing that recognizes where there is potential for harm ensures the best possible outcomes for families.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy; Genetic counseling; Genetic testing; Hypertrophic cardiomyopathy

Mesh:

Year:  2018        PMID: 29525642     DOI: 10.1016/j.hfc.2017.12.001

Source DB:  PubMed          Journal:  Heart Fail Clin        ISSN: 1551-7136            Impact factor:   3.179


  4 in total

Review 1.  Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.

Authors:  Han-Chih Hencher Lee; Chor-Kwan Ching
Journal:  Clin Biochem Rev       Date:  2019-11

Review 2.  Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification.

Authors:  Fergus Stafford; Kate Thomson; Alexandra Butters; Jodie Ingles
Journal:  Curr Cardiol Rep       Date:  2021-01-12       Impact factor: 2.931

3.  Insights into the Classification of Cardiomyopathies: Past, Present, and Future Directions.

Authors:  Vera Maria Cury Salemi; Dania Mohty; Sonia Lages Lustosa de Altavila; Marcelo Dantas Tavares de Melo; Roberto Kalil Filho; Edimar Alcides Bocchi
Journal:  Clinics (Sao Paulo)       Date:  2021-03-26       Impact factor: 2.365

4.  Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.

Authors:  Alessandra Carnevale; Sandra Rosas-Madrigal; Rigoberto Rosendo-Gutiérrez; Enrique López-Mora; Sandra Romero-Hidalgo; Nydia Avila-Vazzini; Leonor Jacobo-Albavera; Mayra Domínguez-Pérez; Gilberto Vargas-Alarcón; Fernando Pérez-Villatoro; Juana Inés Navarrete-Martínez; María Teresa Villarreal-Molina
Journal:  Mol Genet Genomic Med       Date:  2020-09-24       Impact factor: 2.183

  4 in total

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