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COL3A1 mutations in spontaneous coronary artery dissection
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Spontaneous coronary artery dissection (SCAD) is an emergency condition that occurs when a tear forms in one of the blood vessels in the heart. If not diagnosed and treated quickly, it can cause heart attack or sudden death. We study the genetic code of SCAD patients to identify their cause of disease. We hypothesise that some of these patients develop SCAD as part of a connective tissue disorder (CTD) spectrum cause by a mutation in a gene called COL3A1. By interrogating the Genomics England data, we aim to identify whether mutations in this gene can be found to cause SCAD in CTD patients. This can help SCAD patients receive a genetic diagnosis and counselling for the disease risk in their family.
