Could the BGN Gene Be Pathogenic with Spontaneous Coronary Artery Dissection (SCAD) and Fibromuscular Dysplasia (FMD)?

BACKGROUND. Spontaneous coronary artery dissection (SCAD) is a cause of myocardial infarction, especially in younger women without cardiovascular risk factors. Patient management and diagnostics are still largely based on retrospective observational studies. Most patients with SCAD report chest pain have elevated biomarkers ECG findings. can lead to cardiogenic shock, ventricular arrhythmias cardiac arrest, commonly associated fibromuscular dysplasia (FMD). Genetic associations their infancy this disease process. METHODS. An Invitae 29 gene aortopathy panel was performed mother thoracic aortic aneurysm her daughter who presented noted FMD. RESULTS. The patient were both heterozygous mutation the Biglycan (BGN) (Variant c.1030T > G (p.Tyr344His)) undetermined significance. extensive literature review performed, including UK Biobank. This first case our knowledge showing possible link between BGN SCAD/FMD. CONCLUSIONS. has been recognized be correlated dissection. It not yet explored paper highlights potential Further research looking at association warranted.