Non-ischaemic dilated cardiomyopathy: recognising the genetic links

被引:2
|
作者
Paul, Caitlin [1 ,2 ]
Peters, Stacey [3 ,4 ,5 ]
Perrin, Mark [1 ,3 ]
Fatkin, Diane [6 ,7 ,8 ]
Amerena, John [1 ,2 ]
机构
[1] Univ Hosp Geelong, Dept Cardiol, 80 Myers St, Geelong, Vic 3220, Australia
[2] Deakin Univ, Dept Med, Geelong, Vic, Australia
[3] Royal Melbourne Hosp, Dept Cardiol, Melbourne, Vic, Australia
[4] Royal Melbourne Hosp, Dept Genom Med, Melbourne, Vic, Australia
[5] Univ Melbourne, Dept Med, Melbourne, Vic, Australia
[6] Victor Chang Cardiac Res Inst, Sydney, NSW, Australia
[7] Univ New South Wales Sydney, Fac Med & Hlth, Sch Clin Med, Sydney, NSW, Australia
[8] St Vincents Hosp, Cardiol Dept, Sydney, NSW, Australia
关键词
dilated cardiomyopathy; genetics; genetic testing; HEART-FAILURE; RISK STRATIFICATION; POSITION STATEMENT; CLINICAL-PRACTICE; AMERICAN-COLLEGE; MANAGEMENT; GUIDELINES; ASSOCIATION; DEFINITION; MUTATIONS;
D O I
10.1111/imj.15921
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The landscape of genetically related cardiac disease continues to evolve. Heritable genetic variants can be a primary cause of familial or sporadic dilated cardiomyopathy (DCM). There is also increasing recognition that genetic variation is an important determinant of susceptibility to acquired causes of DCM. Genetic forms of DCM can show a wide variety of phenotypic manifestations. Identifying patients who are most likely to benefit from genetic testing is paramount. The objective of this review is to highlight the importance of recognising genetic DCM, key genotype-phenotype correlations and the value of genetic testing in clinical management for both the individual and their family. This is likely to become more relevant as management strategies continue to be refined with genotype-specific recommendations and disease-modifying therapies.
引用
收藏
页码:178 / 185
页数:8
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