Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy.
Lisa D WilsbacherPublished in: Current cardiology reports (2020)
International sequence databases described the landscape of genetic variability across populations, which informed guidelines for the interpretation of DCM gene variants. New evidence indicates that loss-of-function mutations in filamin C (FLNC) contribute to DCM and portend high risk of ventricular arrhythmia. A clinical framework aids in referring patients for DCM genetic testing and applying results to patient care. Results of genetic testing can change medical management, particularly in a subset of genes that increase risk for life-threatening ventricular arrhythmias, and can influence decisions for defibrillator therapy. Clinical screening and cascade genetic testing of family members should be diligently pursued to identify those at risk of developing DCM.
Keyphrases
- genome wide
- copy number
- end stage renal disease
- heart failure
- left ventricular
- newly diagnosed
- ejection fraction
- catheter ablation
- healthcare
- chronic kidney disease
- dna methylation
- peritoneal dialysis
- genome wide identification
- gene expression
- congenital heart disease
- antiretroviral therapy
- big data
- cardiac resynchronization therapy
- amino acid