Abstract
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.
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Abbreviations
- AAV:
-
Adeno-associated virus
- ACCF:
-
American College of Cardiology Foundation
- AHA:
-
American Heart Association
- ARVC:
-
Arrhythmogenic right ventricular cardiomyopathy
- AV:
-
Atrioventricular
- CPVT:
-
Catecholaminergic polymorphic ventricular tachycardia
- DCM:
-
Dilated cardiomyopathy
- EHRA:
-
European Heart Rhythm Association
- ESC:
-
European Society of Cardiology
- HCM:
-
Hypertrophic cardiomyopathy
- HRS:
-
Heart Rhythm Society
- ICD:
-
Implantable cardioverter defibrillator
- LBBB:
-
Left bundle branch block
- LDAC:
-
Left-dominant arrhythmogenic cardiomyopathy
- LVNC:
-
Left ventricular non-compaction cardiomyopathy
- MRI:
-
Magnetic resonance imaging
- PPCM:
-
Peripartum cardiomyopathy
- PVC:
-
Premature ventricular contraction
- RCM:
-
Restrictive cardiomyopathy
- RV:
-
Right ventricle
- SCD:
-
Sudden cardiac death
- VF:
-
Ventricular fibrillation
- VT:
-
Ventricular tachycardia
- WPW:
-
Wolff-Parkinson-White
- XLCM:
-
X-linked forms of dilated cardiomyopathy
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Acknowledgements
The authors gratefully acknowledge a Swiss Government Excellence Scholarship for Doctoral Studies awarded to Dr. Asatryan (ref. 2015.0138) and a research grant from the Swiss Heart Foundation to Dr. Medeiros-Domingo.
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Asatryan, B., Medeiros-Domingo, A. Translating emerging molecular genetic insights into clinical practice in inherited cardiomyopathies. J Mol Med 96, 993–1024 (2018). https://doi.org/10.1007/s00109-018-1685-y
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DOI: https://doi.org/10.1007/s00109-018-1685-y