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Loong et al. J Transl Genet Genom 2023;7:27-49 https://dx.doi.org/10.20517/jtgg.2022.20 Page 31

Loong et al. J Transl Genet Genom 2023;7:27-49 Journal of Translational
DOI: 10.20517/jtgg.2022.20
Genetics and Genomics

Review Open Access

Genomics in practice - a review of inherited cardiac
conditions

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Shaun Seh Ern Loong , Louis Hanqiang Gan , Yoke Ching Lim , Miki Min Qi Ng , Yue Wang , Seok Hwee
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Koo , Nicholas W. S. Chew , Colin Yeo , Vern Hsen Tan , Kevin Ming Wei Leong , Raymond Ching
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Chiew Wong , Weiqin Lin , Ivandito Kuntjoro , David C. Klinzing , Swati Tomar , Roger S. Y. Foo 1,2
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Cardiovascular Research Institute, National University Heart Centre, National University Hospital, Singapore 119228, Singapore.
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Department of Cardiology, National University Heart Centre, National University Hospital, Singapore 119228, Singapore.
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Department of Cardiology, Changi General Hospital, Singapore 529889, Singapore.
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Research Laboratory, Changi General Hospital, Singapore 529889, Singapore.
Correspondence to: Prof. Roger S. Y. Foo, Department of Cardiology, National University Heart Centre, Singapore, 1E Kent Ridge
Road, NUHS Tower Block Level 9, Singapore 119228, Singapore. E-mail: roger.foo@nus.edu.sg
How to cite this article: Loong SSE, Gan LH, Lim YC, Ng MMQ, Wang Y, Koo SH, Chew NWS, Yeo C, Tan VH, Leong KMW,
Wong RCC, Lin W, Kuntjoro I, Klinzing DC, Tomar S, Foo RSY. Genomics in practice - a review of inherited cardiac conditions.
J Transl Genet Genom 2023;7:27-49. https://dx.doi.org/10.20517/jtgg.2022.20
Received: 31 Oct 2022 First Decision: 30 Jan 2023 Revised: 9 Feb 2023 Accepted: 16 Feb 2023 Published: 24 Feb 2023
Academic Editors: Brian Hon-Yin Chung, Kelvin Y. K. Chan Copy Editor: Fangling Lan Production Editor: Fangling Lan
Abstract
Interest in inherited cardiovascular conditions (ICCs) is fueled by resources devoted to its diagnosis, management,
and research. The rapid advancement of DNA genomic sequencing deepens our understanding of ICCs. The ICC
genomic landscape empowers the development of diagnostic guidelines and the discovery of potential therapeutic
targets and promises novel therapeutics, especially in precision cardiology. Therefore, it is essential for healthcare
institutes and systems to develop contextual frameworks based on current guidelines to provide holistic care for
patients with ICCs. The clinical frameworks and considerations described in this review provide an overview of the
operations of an ICC clinic, including wet and dry lab conditions, work performed by a healthcare professional, and
the variety of cases, ranging from cardiomyopathies to arrythmias to aortopathies. Insights from our experience in
an ICC clinic in Singapore add to the discussion of the challenges and benefits for patients and clinicians who serve
them.

Keywords: Clinical genomics, genetic testing, inherited cardiac condition, cardiomyopathy, arrhythmias, sudden
cardiac death

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
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