Genetic testing in patients with unexplained coronary aneurysms or dilation

Examples of patients with coronary aneurysms and coronary dilation with underlying genetic aetiology. (A1 and A2) Computed tomography findings of the dilated left anterior descending (A1) and circumflex (A2) coronary arteries in a patient with Loeys–Dietz syndrome due to a pathogenic TGFBR2 variant c.1301T>C; p.(Met434Thr). This patient also had a type A aortic dissection and a mesenteric artery aneurysm. (B1 and B2) Invasive angiogram findings in a patient subsequently identified with a pathogenic PRKG1 variant c.575G>A; p.(Arg192Gln) presenting with an inferior ST-elevation myocardial infarction, gross left coronary dilation (B1) and thrombus within the dilated right coronary artery (B2). This patient also had dilation of the subclavian, brachiocephalic, common carotid arteries and the coeliac axis. (C) Invasive angiogram of a patient with vascular Ehlers–Danlos syndrome due to a pathogenic c.2553+2T>A COL3A1 variant with irregular right coronary dilation. This patient also had a bowel rupture at the age of 26 years. (D) Invasive angiogram in a patient with a COL1A1 pathogenic variant c.4081G>A p.(Glu1361Lys) showing a giant left anterior descending coronary artery aneurysm. This patient also had a type A aortic dissection but did not have clinical features of osteogenesis imperfecta. All patients were consented to the coronary aneurysm and ectasia study which has been granted ethical approval by the UK Human Research Authority (REC reference 16/LO/0461).