The Expert Consensus Recommendations on Criteria for the Diagnosis of Cardiac Sarcoidosis mentions two ways of diagnosing cardiac sarcoidosis: 1) by diagnosing the presence of non-caseating granuloma on histological examination of myocardial tissue with no alternative cause, and 2) clinical diagnosis from invasive and non-invasive studies [1]. However, the disease’s patchy myocardial involvement limits the diagnostic yield of blind endomyocardial biopsies.
Granrud et al. presented the case of a 47-year-old Caucasian female with a longstanding history of atypical chest pain [2]. She was admitted with recurrent syncope over 2 weeks. The electrocardiogram showed a new right bundle branch block and a first-degree atrioventricular block. A chest CT was performed, demonstrating enlarged hilar lymph nodes, while the cardiac MRI showed diffuse regional abnormalities with sub-endocardial perfusion defects and mid-myocardial late gadolinium enhancement (LGE) with left ventricular ejection fraction of 38% and right ventricular ejection fraction of 29%. While hospitalised, the patient had a symptomatic run of non-sustained monomorphic ventricular tachycardia.
Although the imaging studies were consistent with cardiac sarcoidosis, the identified sub-endocardial perfusion defects raised concern for giant cell myocarditis. Given the therapeutic and prognostic implications, endomyocardial biopsy was planned to establish a tissue diagnosis. To maximise the biopsy yield, voltage mapping and fractionated electrograms were used to identify potential biopsy sites corresponding to the site of right ventricular septal LGE. One of the 5 samples revealed non-necrotising granulomatous inflammation and focal fibrosis indicative of cardiac sarcoidosis. An FDG-PET scan revealed diffuse lymph node and liver uptake in addition to light ventricular involvement. The patient was treated with amiodarone, prednisone, and leflunomide immunosuppression and received a dual-chamber implantable cardioverter defibrillator.
1. Birnie DH, et al. Heart Rhythm 2014;11:1305-23.
2. Granrud M, et al. Abstract 1265-222. ACC 2019, 16-18 March, New Orleans, USA.
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