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

Asatryan, Babken; Medeiros-Domingo, Argelia (2018). Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies. Journal of molecular medicine JMM, 96(10), pp. 993-1024. Springer 10.1007/s00109-018-1685-y

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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.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Asatryan, Babken

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0946-2716

Publisher:

Springer

Language:

English

Submitter:

Babken Asatryan

Date Deposited:

09 Apr 2019 18:02

Last Modified:

09 Apr 2019 18:11

Publisher DOI:

10.1007/s00109-018-1685-y

PubMed ID:

30128729

Uncontrolled Keywords:

Arrhythmia Cardiomyopathy Genetic test Genetics Sudden cardiac arrest Sudden death

BORIS DOI:

10.7892/boris.126059

URI:

https://boris.unibe.ch/id/eprint/126059

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