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Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies.

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BORIS DOI
10.7892/boris.126059
Publisher DOI
10.1007/s00109-018-1685-y
PubMed ID
30128729
Description
Cardiomyopathies are primarily genetic disorders of the myocardium associated with higher risk of life-threatening cardiac arrhythmias, heart failure, and sudden cardiac death. The evolving knowledge in genomic medicine during the last decade has reshaped our understanding of cardiomyopathies as diseases of multifactorial nature and complex pathophysiology. Genetic testing in cardiomyopathies has subsequently grown from primarily a research tool into an essential clinical evaluation piece with important clinical implications for patients and their families. The purpose of this review is to provide with a contemporary insight into the implications of genetic testing in diagnosis, therapy, and prognosis of patients with inherited cardiomyopathies. Here, we summarize the contemporary knowledge on genotype-phenotype correlations in inherited cardiomyopathies and highlight the recent significant achievements in the field of translational cardiovascular genetics.
Date of Publication
2018-10
Publication Type
Article
Subject(s)
600 Technology > 610 Medicine & health
Keyword(s)
Arrhythmia Cardiomyopathy Genetic test Genetics Sudden cardiac arrest Sudden death
Language(s)
en
Contributor(s)
Asatryan, Babkenorcid-logo
Universitätsklinik für Kardiologie
Medeiros-Domingo, Argelia
Additional Credits
Universitätsklinik für Kardiologie
Series
Journal of molecular medicine JMM
Publisher
Springer
ISSN
0946-2716
Access(Rights)
open.access
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