Cardiac sarcoidosis with severe involvement of the right ventricle: a case report

Abstract

We present the case of a patient who underwent cardiac transplantation with the diagnosis of idiopathic dilated cardiomyopathy. Once the explanted heart was examined, a type of granulomatous myocarditis compatible with cardiac sarcoidosis was observed. However, there was severe involvement of the right ventricle, with markedly reduced width of the muscular layer and extensive fibrofatty replacement, findings similar to the ones encountered in cases of arrhythmogenic right ventricular cardiomyopathy (ARVC). Confocal immunofluorescence analysis revealed a reduced signal for plakoglobin and desmoplakin at the cardiac intercalated disks. The immunoreactive signal for desmin showed the typical sarcomeric distribution but not a concentrated signal at the intercalated disks, a pattern previously seen in an 11-year-old girl with Carvajal syndrome bearing a C-terminal truncating mutation in the desmoplakin gene. This case illustrates the difficult and challenging work involved in performing a differential diagnosis among idiopathic dilated cardiomyopathy, isolated cardiac sarcoidosis, and ARVC, all of which are clinical entities known to masquerade as one another.

Predicting risk of sudden cardiac death in patients with cardiac sarcoidosis using multimodality imaging and personalized heart modeling in a multivariable classifier

“…Although the fibrogenic pathways are different in CS and MI ( 2 , 40 ), in the absence of data on the electrophysiologic properties of this region in CS, we assumed that it might exhibit similarly slowed conduction and decreased anisotropy. In support of this assumption, we note that gap junction lateralization, which results in slowed conduction and decreased anisotropy, has been observed histologically in fibrotic regions of human heart tissue from patients with CS ( 42 ). In addition, Muser et al ( 16 ) observed that areas of both fibrosis and inflammation in CS typically have abnormal unipolar voltage and either normal or abnormal bipolar voltage on electroanatomic maps, which further supports our assumption.…”

FDG PET of Isolated Right Ventricular Sarcoidosis

“…An autopsy series reported left ventricular involvement in 98% and right ventricular involvement in 39% of individuals. 4,5 Reports of sarcoidosis isolated to the right ventricle based upon pathologic examination do exist. 6 FDG PET/CT is an effective tool for the diagnosis of cardiac sarcoidosis.…”

“…Right ventricular disease does occur but almost always in conjunction with left ventricular sarcoidosis. An autopsy series reported left ventricular involvement in 98% and right ventricular involvement in 39% of individuals 4,5 . Reports of sarcoidosis isolated to the right ventricle based upon pathologic examination do exist 6 .…”

Differentiating hereditary arrhythmogenic right ventricular cardiomyopathy from cardiac sarcoidosis fulfilling 2010 ARVC Task Force Criteria

“…Diagnosis requires a multi-modality evaluation and is established by fulfillment of the Revised 2010 International Task Force Criteria (TFC) 3 . Although constituting the current diagnostic gold standard, previous studies suggest that the TFC are not very specific for ARVC, and that the TFC cannot reliably differentiate between hereditary ARVC and some of its phenocopies [4][5][6][7][8] .…”