Genomics in practice - a review of inherited cardiac conditions

被引:1
|
作者
Loong, Shaun Seh Ern
Gan, Louis Hanqiang
Lim, Yoke Ching [1 ]
Ng, Miki Min Qi
Wang, Yue [2 ]
Koo, Seok Hwee [4 ]
Chew, Nicholas W. S. [1 ]
Yeo, Colin [2 ,3 ]
Tan, Vern Hsen [2 ,3 ]
Leong, Kevin Ming Wei [1 ]
Wong, Raymond Ching Chiew
Lin, Weiqin
Kuntjoro, Ivandito
Klinzing, David C. [1 ]
Tomar, Swati [1 ]
Foo, Roger S. Y. [1 ,5 ]
机构
[1] Natl Univ Singapore Hosp, Natl Univ Heart Ctr, Cardiovasc Res Inst, Singapore 119228, Singapore
[2] Natl Univ Heart Ctr, Natl Univ Hosp, Dept Cardiol, Singapore 119228, Singapore
[3] Changi Gen Hosp, Dept Cardiol, Singapore 529889, Singapore
[4] Changi Gen Hosp, Res Lab, Singapore 529889, Singapore
[5] Natl Univ Heart Ctr, Dept Cardiol, 1E Kent Ridge Rd,NUHS Tower Block Level 9, Singapore 119228, Singapore
基金
英国医学研究理事会;
关键词
Clinical genomics; genetic testing; inherited cardiac condition; cardiomyopathy; arrhythmias; sudden cardiac death; LONG-QT SYNDROME; POLYMORPHIC VENTRICULAR-TACHYCARDIA; DILATED CARDIOMYOPATHY; MARFAN-SYNDROME; HYPERTROPHIC CARDIOMYOPATHY; BRUGADA SYNDROME; CLINICAL-MANIFESTATIONS; ARRHYTHMIC EVENTS; EUROPEAN-SOCIETY; INFORMED-CONSENT;
D O I
10.20517/jtgg.2022.20
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:27 / 49
页数:23
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