Aortic Stenosis (GeneCAST)

Chief Investigator: Professor Sir Nilesh Samani
Principal Investigator: Dr Muntaser Musameh
Study Start: September 2011

Lab AnalysisAortic stenosis is a condition that causes narrowing and obstruction of the aortic valve, one of the four heart valves that control blood flow within the heart and around the body. Over time, fat and calcium (chalk) deposits can make the valve leaflets rigid and limit the valve’s ability to open and allow sufficient blood flow from the heart to the rest of the body. The condition affects around 2 % of people within the United Kingdom and is more common in older people (4-5% in over 75). Although some patients with aortic stenosis have no symptoms, others may experience significant shortness of breath, chest pain, loss of consciousness and even sudden death. Currently the only available treatment is to replace the valve, using either standard surgical procedures or keyhole surgery.

The Genetics of Calcific Aortic STenosis (GeneCAST) study aims to improve our understanding of the causes of aortic stenosis by examining the blood, urine and genes of around 2000 patients with aortic stenosis and comparing them to a similar number of individuals free from the disease. By studying these factors we hope to identify new pathways and targets for drugs to help treat the condition and identify biomarkers that may help us detect the condition in people earlier.

For further information about theGeneCAST study please email Emma.Beeston@uhl-tr.nhs.uk.

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