Immunoglobulin G4-Related Disease of the Heart Causing Aortic Regurgitation and Heart Block

Immunoglobulin G4-Related Cardiovascular Diseases

“…Infiltration of IgG4-positive plasma cells often disturbs heart valve function, through stenosis and/or regurgitation. [20][21][22] Besiik and colleagues reported a case requiring both aortic and mitral valve replacement, 20) Maleszewski and colleagues presented two cases affecting the aortic valve, 21) and Yamauchi and colleagues reported a case with aortic regurgitation and heart block. 22) IgG4 infiltration sometimes forms a swollen tumorous lesion on a valve leaflet, and in each report valve replacement was selected as the most appropriate treatment.…”

Klippel–Feil syndrome: A very unusual cause of severe aortic regurgitation visualized by multimodality imaging

“…An alternative explanation could have been his immunodeficiency. However, he did not have immunoglobulin G4‐related disease or DiGeorges, the immunodeficiency syndromes previously reported to be associated with aortic valve disease. This patient underwent successful aortic valve replacement with a bioprosthesis with subsequent symptomatic improvement.…”

Inflammatory Myofibroblastic Tumor of the Aortic Valves Causing Sudden Cardiac Death: A Case Report and Review of the Literature

“…The major differential diagnoses of this histo logic appearance are cardiac IMT and IgG4-related disease. IgG4-related disease is a chronic inflamma tory condition characterized histologically by storiform fibrosis, obliterative phlebitis, and/or prominent lymphoplasmacytic infiltrate with an increased number of IgG4positive plasma cells [49][50][51][52], It may rarely affect the heart, with a handful of cases being reported in the literature in the forms of periarteritis, myocardial disease, and pericar ditis [53][54][55][56], The endocardium-location of this tumor, the lack of typical histological features, and a low count of IgG4-positive plasma cells exclude such diagnosis in the current case.…”

“…Burke and colleagues [7] have postulated that IMTs arising within the heart might be biologically distinct from those from other body sites. ALK-1 alteration in IMTs can be detected by FISH and IHC, with a high rate of concordance between the 2 detection methods [49,58], However, FISH test is generally considered as a more sensitive and specific detection method for ALK-1, and there are cases without ALK-1 protein expression on IHC showing ALK-1 alteration on FISH [49][50][51][52][53][54][55][56][57][58][59], To our knowledge, this is the 1st case of cardiac IMTs with FISH analysis performed, and no ALK-1 rearrangement was detected in our case. Additional studies using IHC and FISH for ALK-1 are required to clarify if such discrepancy between cardiac and extracardiac IMTs is an aberration or truly indicates a different underlying genotype.…”