Case report of Loeys-Dietz syndrome presenting with coronary artery aneurysm

BACKGROUND: Loeys-Dietz syndrome (LDS) is a heritable disorder that presents with thoracic aortic aneurysm and/or dissection caused by a mutation in one of the transforming growth factor-B receptor or ligand genes. It is associated with widespread familial arterial aneurysm and rupture. CASE SUMMARY: We present a case of a 70-year-old male with a family history of heritable thoracic aortic aneurysm disease who presented to the emergency department with chest pain. His presenting electrocardiogram was significant for ST elevation in the inferior leads with complete heart block. Computed tomography-angiography was done to rule out aortic dissection, which was negative for aortic dissection but did reveal 3.9 cm infrarenal abdominal aortic aneurysm and 2.7 cm bilateral iliac artery aneurysms. He was then taken for invasive angiography and was found to have aneurysmal dilation of the entire right coronary artery measuring up to 6 mm with 100% occlusion secondary to thrombus in the distal segment. He was found to have obstructive disease in the left anterior descending artery and first and second obtuse marginals (OMs). Genetic testing performed confirmed a pathogenic mutation in the TGFBRI gene (TGFBRI c.934G > A p.Gly312Ser) consistent with the diagnosis of LDS. DISCUSSION: Although LDS is known to cause arterial aneurysms throughout the arterial tree, there have been no other cases of primary coronary aneurysms reported in this patient population. This case represents the first description of a patient with genetically confirmed LDS presenting with coronary artery aneurysm.