Inside and Out

This Clinical Problem-Solving case details the diagnostic journey of a 38-year-old woman with recurrent early-onset myocardial infarction and diffuse coronary aneurysms. Her presentation included ST-elevation, prior stenting, and refractory chest pain. Imaging revealed thrombosis in a tortuous aneurysmal segment of the left anterior descending artery, alongside diffuse aneurysms of all major coronary vessels. Initial differential diagnoses included connective tissue disease, vasculitis, and Kawasaki disease, but rheumatologic and infectious markers were negative. A detailed skin exam revealed café au lait spots, axillary freckling, and cutaneous neurofibromas. Histologic confirmation and genetic testing (NF1 missense mutation Lys1423Glu) led to a diagnosis of neurofibromatosis type 1. The case highlights coronary vasculopathy as a rare but serious manifestation of NF1, resulting in aneurysmal disease and premature cardiovascular events. Coronary artery bypass grafting was successfully performed, and whole-body imaging ruled out malignancy.

This Clinical Problem-Solving case details the diagnostic journey of a 38-year-old woman with recurrent early-onset myocardial infarction and diffuse coronary aneurysms. Her presentation included ST-elevation, prior stenting, and refractory chest pain. Imaging revealed thrombosis in a tortuous aneurysmal segment of the left anterior descending artery, alongside diffuse aneurysms of all major coronary vessels. Initial differential diagnoses included connective tissue disease, vasculitis, and Kawasaki disease, but rheumatologic and infectious markers were negative. A detailed skin exam revealed café au lait spots, axillary freckling, and cutaneous neurofibromas. Histologic confirmation and genetic testing (NF1 missense mutation Lys1423Glu) led to a diagnosis of neurofibromatosis type 1. The case highlights coronary vasculopathy as a rare but serious manifestation of NF1, resulting in aneurysmal disease and premature cardiovascular events. Coronary artery bypass grafting was successfully performed, and whole-body imaging ruled out malignancy.