Top

Published in:

Open Access 01-06-2019 | Cardiomyopathy | Commentary

Evaluation of gene panels for inherited cardiac disease—is less more?

Authors: D. Dooijes, M. Siemelink, A. F. Baas

Published in: Netherlands Heart Journal | Issue 6/2019

Excerpt

In this issue of the Netherlands Heart Journal, van Lint et al. describe the yield of diagnostic next-generation sequencing (NGS) gene panels for cardiomyopathies and primary arrhythmia syndromes [1]. Historically, cardiogenetic testing was performed using Sanger sequencing, usually in a gene-by-gene fashion each requiring many months. In 2012, diagnostic NGS testing was introduced in the Netherlands, enabling rapid analysis of large gene panels simultaneously (e. g. over 50 genes in 2–3 months), drastically improving cardiogenetic diagnostics. …

van Lint FHM, Mook ORF, Alders M, et al. Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. Neth Heart J. 2019. https://doi.org/10.1007/s12471-019-1250-5.CrossRefPubMed

Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29:1282–91.CrossRef

Walsh R, Thomson KL, Ware JS, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017;19:192–203.CrossRef

Ingles J, Goldstein J, Thaxton C, et al. Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ Genom Precis Med. 2019;12:e2460.PubMedPubMedCentral

Christiaans I, Mook ORF, Alders M, et al. Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice. Neth Heart J. 2019. https://doi.org/10.1007/s12471-019-1251-4.CrossRefPubMed

Title: Evaluation of gene panels for inherited cardiac disease—is less more?
Authors: D. Dooijes
M. Siemelink
A. F. Baas
Publication date: 01-06-2019
Publisher: Bohn Stafleu van Loghum
Keyword: Cardiomyopathy
Published in: Netherlands Heart Journal / Issue 6/2019
Print ISSN: 1568-5888
Electronic ISSN: 1876-6250
DOI: https://doi.org/10.1007/s12471-019-1279-5

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Heart Failure Video

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.

Watch now

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Evaluation of gene panels for inherited cardiac disease—is less more?

Excerpt

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 6/2019

A 69-year-old male patient presenting with chest pain and shortness of breath

Cardiology fellows-in-training are exposed to relatively high levels of radiation in the cath lab compared with staff interventional cardiologists—insights from the RECAP trial

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

A 69-year-old male patient presenting with chest pain and shortness of breath

Intracavitary course of right coronary artery

Five-year results of the complete versus culprit vessel percutaneous coronary intervention in multivessel disease using drug-eluting stents II (CORRECT II) study: a prospective, randomised controlled trial

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page