Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

被引：4

作者：

Lamounier Junior, Arsonval ^{[1
,2
]}

Ferrari, Filipe ^{[3
,4
]}

Max, Renato ^{[5
]}

Fonteles Ritt, Luiz Eduardo ^{[6
,7
]}

Stein, Ricardo ^{[3
,4
]}

机构：

[1] Hlth Code SL, Sci Dept, La Coruna, Spain

[2] Univ A Coruna, GRINCAR Cardiovasc Res Grp, La Coruna, Spain

[3] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Grad Program Cardiol & Cardiovasc Sci, Porto Alegre, RS, Brazil

[4] Univ Fed Rio Grande do Sul, Exercise Cardiol Res Grp CardioEx, Hosp Clin Porto Alegre, Porto Alegre, RS, Brazil

[5] Hosp Univ Onofre Lopes, Natal, RN, Brazil

[6] Escola Bahiana Med & Saude Publ, Salvador, BA, Brazil

[7] Hosp Cardio Pulm, Salvador, BA, Brazil

来源：

ARQUIVOS BRASILEIROS DE CARDIOLOGIA | 2019年 / 113卷 / 02期

关键词：

Cardiomyopathy; Dilated/genetics; Ventricular Dysfunction; Left; Heart Failure; Genetic Testing/methods; Heart Transplantation; TRUNCATING VARIANTS; POSITION STATEMENT; WORKING GROUP; HIGH-RISK; MUTATIONS; BAG3; METAANALYSIS; ARRHYTHMIAS; TRANSPLANT; GENOTYPE;

D O I：

10.5935/abc.20190144

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.

引用

页码：274 / 281

页数：8

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