Rare clinical convergence: pulmonary sarcoidosis with dilated cardiomyopathy and central myopathy

A female in her early 40s with a history of acute decompensated congestive heart failure was admitted following a farming accident and received a contrast-enhanced CT trauma scan of the whole body which subsequently revealed extensive lung fibrosis, cavitations, granulomas and hilar lymphadenopathy. Subsequent whole body 18F-fluorodeoxyglucose positron emission tomography-computed tomography (FDG PET-CT) showed no evidence of metabolic activity within the myocardium or skeletal muscles, excluding cardiac sarcoidosis and inflammatory cardiac disease, but extensive pulmonary metabolic activity consistent with pulmonary sarcoidosis. Cardiac MRI ventricular volume studies excluded inflammatory, infiltrative or ischaemic pathology; however, genetic testing identified the LMNA A/C gene mutation. She had also exhibited truncal, proximal and axial muscle weakness following her original admission. In this report, we present the rare and challenging coexistence of pulmonary sarcoidosis and LMNA-related dilated cardiomyopathy with laminopathy-associated proximal myopathy and describe the challenges with overlapping multisystem diseases.