Genomic analysis in patients with myxomatous mitral valve prolapse: current state of knowledge.
Simone GasserH ReichenspurnerE GirdauskasPublished in: BMC cardiovascular disorders (2018)
Barlow's disease is a heritable trait but the genetic causes remain largely elusive. Ch16p11.2-p12.1 is the only locus proven to be associated with bileaflet prolapse. Locus 13.q31.3-q32.1 was shown to cause bileaflet as well as posterior leaflet prolapse. This review intends to make physicians aware of genetic causes of myxomatous mitral valve prolapse, thereby emphasising the importance of cardiological examination of first-degree relatives of patients with Morbus Barlow. Integrated and more comprehensive studies are needed for identification of genes involved in this heterogenic disease. Further genomic studies may facilitate more individualised and accurate risk assessment and may help to develop possible preventive stategies for patients in the future.
Keyphrases
- mitral valve
- risk assessment
- left atrial
- end stage renal disease
- genome wide
- left ventricular
- urinary incontinence
- copy number
- ejection fraction
- chronic kidney disease
- newly diagnosed
- primary care
- healthcare
- peritoneal dialysis
- case control
- prognostic factors
- patient reported outcomes
- dna methylation
- aortic valve
- current status
- heart failure
- heavy metals
- human health
- gene expression
- mass spectrometry