cardiac sarcoid diagnosis is important

This patient has bilateral hilar adenopathy, nonnecrotizing granulomatous skin lesions, a negative infectious and autoimmune evaluation, and a cardiac conduction defect all consistent with cardiac sarcoidosis. The diagnosis of sarcoidosis is one of exclusion and usually based on a combination of a typical clinical presentation, nonnecrotizing granulomatous inflammation, and exclusion of alternative diagnoses. Because of these inherent limitations, the diagnosis is never absolute. This patient has features of bilateral hilar adenopathy, dry cough, hypercalcemia, and noncaseating granulomatous skin lesions all consistent with sarcoidosis. Excluding other forms of granulomatous diseases can be exhaustive, and the degree to which these must be excluded may best depend on the penalty of being wrong. His tissue cultures of his skin were negative, and his clinical picture is less typical for lymphoma, lymphomatoid granulomatosis, and vasculitis. He is a relatively young nonsmoker without concerning occupational lung diseases, and the diagnosis of sarcoidosis can be made with a high degree of probability.

The patient reports no symptoms of cardiac sarcoid (eg, palpitations, dyspnea on exertion, fluid overload), and this would normally suggest echocardiography is not necessary based on consensus guidelines. However, he does have a cardiac conduction defect suggested by his prolonged PR interval, raising the possibility of cardiac sarcoidosis, and cardiac evaluation typically begins with echocardiogram to assess overall anatomy and function. Determining the presence of cardiac sarcoid is important, as it influences both dose and duration of immunosuppressive agents (choice C is correct). If echocardiogram reveals a speckling pattern or reduced ejection fraction, more advanced imaging, with cardiac MRI or PET scan, is often needed to better characterize the presence of inflammation in the heart. Both imaging modalities can be useful, with current reviews suggesting that MRI is more sensitive for predicting adverse events but that fluorodeoxyglucose-PET scan is more specific. Endomyocardial biopsies are the diagnostic gold standard but carry substantial risk.

The presence of pleuritic chest pain and the small pleural effusion are relatively rare features in sarcoidosis (2%-5%). However, sampling the small amount of pleural fluid in this patient would be difficult and unlikely to add much in terms of diagnostic certainty, prognosis, or management (choice A is incorrect). This patient’s skin biopsy helps establish the histologic pattern of inflammation, largely eliminating any added value of sampling lung parenchyma or mediastinal lymph nodes (choices B and D are incorrect). Had the skin biopsy been nondiagnostic, bronchoscopic sampling of the lung could be helpful, and sampling of mediastinal lymph nodes under endobronchial ultrasound guidance is reported to have a greater diagnostic yield (80%-90%) than transbronchial and endobronchial biopsies (50%-75%).