Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.
Aniek L van WijngaardenYasmine L HiemstraTamara T KoopmannClaudia A L RuivenkampEmmelien AtenMartin J SchalijJeroen J BaxVictoria DelgadoDaniela Q C M Barge-SchaapveldNina Ajmone MarsanPublished in: Journal of medical genetics (2020)
Exome slice sequencing analysis performed in MVP probands reveals a low genetic yield in known causative genes but may expand the cardiac phenotype of other genes. This study suggests for the first time that also genes related to cardiomyopathy may be associated with MVP. This highlights the importance to screen these patients and their family for the presence of arrhythmias and of 'disproportionate' LV remodelling as compared with the severity of mitral regurgitation, unravelling a possible coexistent cardiomyopathy.
Keyphrases
- genome wide
- bioinformatics analysis
- mitral valve
- end stage renal disease
- copy number
- heart failure
- genome wide identification
- newly diagnosed
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- high throughput
- gene expression
- single cell
- magnetic resonance imaging
- transcription factor
- patient reported
- congenital heart disease
- atrial fibrillation