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Cardiac Sarcoidosis Clinical Diagnosis — EECC MCQ

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ModerateCardiomyopathyCardiac Sarcoidosis Clinical DiagnosisEECC

A 55-year-old man with suspected cardiac sarcoidosis has a positive FDG-PET with focal myocardial uptake, patchy LGE on CMR, and a non-diagnostic endomyocardial biopsy. Is the diagnosis confirmed?

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Correct answer: E — Using the HRS expert consensus criteria, the combination of histological evidence of extracardiac sarcoidosis PLUS cardiac imaging abnormalities (PET/CMR findings) with exclusion of other causes is sufficient for a clinical diagnosis of cardiac sarcoidosis without requiring positive endomyocardial biopsy

Cardiac sarcoidosis diagnosis is challenging because endomyocardial biopsy has low sensitivity (~20-30%) due to patchy granuloma distribution. The HRS 2014 Expert Consensus and ESC 2023 Cardiomyopathy Guidelines use two diagnostic pathways: (1) Histological diagnosis: non-caseating granulomas on endomyocardial biopsy (definitive but rarely positive); (2) Clinical diagnosis: histologically confirmed extracardiac sarcoidosis (e.g. lung, lymph node biopsy) PLUS one or more cardiac abnormalities (unexplained AV block, cardiomyopathy, sustained VT, abnormal FDG-PET uptake, unexplained LGE on CMR) PLUS exclusion of other causes. This second pathway is used in the majority of clinical diagnoses. The combination of positive FDG-PET + LGE on CMR with extracardiac histological confirmation has high diagnostic accuracy (~90%).

Reference: ESC (2023): Cardiomyopathies Guidelines; HRS Cardiac Sarcoidosis Consensus