Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.
Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.
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心肌病中遗传筛查的方法：临床医生实用指导。
DOI：
10.1016/j.jchf.2022.11.025
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发表时间：
2023-02
影响因子：
13
通讯作者：
Kontorovich, Amy R.
中科院分区：
文献类型：
--
作者：
Kontorovich, Amy R.
当通过多学科方法（包括遗传咨询和明智地使用基因检测）阐明心肌病的遗传病因时，患者和家庭将受益。当对具有明确表型的先证者进行基因检测时，基因检测的产量得到优化，并询问与该特定形式的心肌病相关的经验证的基因。意义不确定的变异经常被发现，不应过度解释。将有影响力的遗传变异确定为患者心肌病的原因可能具有重要的预后影响，并使简化的级联测试能够突出风险亲属。某些基因型与独特的潜在心脏和非心脏风险因素相关，并可能决定个性化的治疗方法。
Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted. Identifying an impactful genetic variant as the cause of a patient’s cardiomyopathy can have important prognostic impact, and enable streamlined cascade testing to highlight at risk relatives. Certain genotypes are associated with unique potential cardiac and noncardiac risk factors and may dictate personalized approaches to treatment.
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影响因子：
6
作者：
Maggi L;Carboni N;Bernasconi P
通讯作者：
Bernasconi P
DOI：
10.1161/circgen.120.003273
发表时间：
2021-06
期刊：
Circulation. Genomic and precision medicine
影响因子：
--
作者：
James CA;Jongbloed JDH;Hershberger RE;Morales A;Judge DP;Syrris P;Pilichou K;Domingo AM;Murray B;Cadrin-Tourigny J;Lekanne Deprez R;Celeghin R;Protonotarios A;Asatryan B;Brown E;Jordan E;McGlaughon J;Thaxton C;Kurtz CL;van Tintelen JP
通讯作者：
van Tintelen JP
影响因子：
7.4
作者：
Hoss, Sara;Habib, Manhal;Adler, Arnon
通讯作者：
Adler, Arnon
影响因子：
24
作者：
Gigli, Marta;Merlo, Marco;Mestroni, Luisa
通讯作者：
Mestroni, Luisa
影响因子：
24
作者：
Lorenzini, Massimiliano;Norrish, Gabrielle;Elliott, Perry M.
通讯作者：
Elliott, Perry M.