| Domain | Key evidence/data | Suggested ontology terms | Evidence type/limitations |
|---|---|---|---|
| Definition / identifier | Immune-mediated granulomatous myocarditis occurring in systemic sarcoidosis or as isolated cardiac disease; MONDO:0001707 | MONDO:0001707; MeSH: Sarcoidosis; NCIT: Granuloma | Disease-level aggregated literature/resources; no single universally accepted molecular definition (pqac-00000000, pqac-00000001, pqac-00000003) |
| Epidemiology | Clinically recognized cardiac involvement occurs in a minority of sarcoidosis cases, while occult involvement is substantially higher on imaging/autopsy; higher burden reported in Black patients and Northern European populations; adult-onset predominates | HP:0001627 Abnormality of the cardiovascular system; PATO: adult onset | Estimates vary widely by ascertainment method and geography; underdiagnosis is common (pqac-00000001, pqac-00000002, pqac-00000003, pqac-00000006, pqac-00000007) |
| Etiology / genetics | Multifactorial disease with immune, environmental, and genetic contributions; familial clustering reported; HLA and non-HLA susceptibility associations implicated, but no established monogenic causal gene for cardiac sarcoidosis | GO:0001817 regulation of cytokine production; HP:0000007 Autosomal recessive inheritance not established; HP:0012275 Multifactorial inheritance | Mostly association data and extrapolation from systemic sarcoidosis; gene-level target evidence remains sparse (pqac-00000000, pqac-00000001, pqac-00000005, pqac-00000011, pqac-00000012) |
| Phenotypes | Common presentations include atrioventricular block, bundle branch block, ventricular arrhythmias, premature ventricular complexes, heart failure, reduced LVEF, syncope, and sudden cardiac death; isolated and systemic forms both occur | HP:0011710 Atrioventricular block; HP:0001644 Dilated cardiomyopathy; HP:0001663 Ventricular arrhythmia; HP:0001279 Syncope; HP:0001645 Sudden cardiac death | Phenotype frequencies depend on referral cohort and diagnostic pathway; many cases are subclinical (pqac-00000001, pqac-00000002, pqac-00000004, pqac-00000006) |
| Immune mechanism | Non-necrotizing granulomas composed of macrophages/epithelioid cells and CD4+ T cells; Th1-skewed cytokines (IL-2, TNF, IFN-γ) promote granulomatous inflammation, with downstream fibrosis and electrical instability | GO:0006954 inflammatory response; GO:0001816 cytokine production; CL:0000623 natural killer cell; CL:0000863 inflammatory macrophage; CL:0000624 CD4-positive, alpha-beta T cell | Mechanistic model derived largely from systemic sarcoidosis plus cardiac clinicopathologic correlation; causative antigen(s) unresolved (pqac-00000001, pqac-00000003, pqac-00000005) |
| Anatomy | Primary site is myocardium, especially ventricular myocardium and conduction system; right ventricular involvement can occur; downstream effects include scar/fibrosis and ventricular dysfunction | UBERON:0002084 heart; UBERON:0002349 myocardium; UBERON:0002405 cardiac ventricle; UBERON:0010000 cardiac conduction system | Imaging-pathology concordance is strong, but lesion distribution is patchy (pqac-00000004, pqac-00000009) |
| Diagnostics | EMB is highly specific but insensitive because of patchy disease; reported EMB sensitivity ~20–30% (unguided yield ~25%, up to ~50% with image/voltage guidance). CMR with LGE: sensitivity ~91–99% and specificity ~98–100% in one review; extracardiac-screening studies report sensitivity 75–100% and specificity 76–78%. FDG-PET: sensitivity ~71–91% and specificity ~74–89%; meta-analytic benchmark often cited near 89%/78% | NCIT: Endomyocardial Biopsy; NCIT: Cardiac Magnetic Resonance Imaging; NCIT: Positron Emission Tomography; HP:0030972 Late gadolinium enhancement | Performance varies by preparation protocol, case definition, and cohort enrichment; HRS/WASOG/JCS criteria are not fully concordant (pqac-00000008, pqac-00000009) |
| Prognosis | Major risks are ventricular tachyarrhythmia, heart failure progression, conduction disease, and sudden death; combined perfusion defect plus abnormal FDG uptake linked to ~4-fold higher annual VT/death rates; RV FDG uptake linked to ~5-fold higher event rates | HP:0001644 Dilated cardiomyopathy; HP:0004756 Ventricular tachycardia; HP:0001635 Congestive heart failure; HP:0001645 Sudden cardiac death | Prognosis is strongly imaging-dependent; survival estimates vary and recent nationwide numeric survival data were not fully extractable here (pqac-00000001, pqac-00000009) |
| Treatment response | First-line therapy is glucocorticoids; reasonable initial prednisone dose often 30–40 mg/day. In systematic review, AV conduction improved in 76/178 (42.7%) treated patients versus 0/21 untreated; combined steroid plus steroid-sparing therapy may reduce relapse compared with steroids alone | NCIT: Prednisone; NCIT: Methotrexate; NCIT: Azathioprine; NCIT: Mycophenolate Mofetil; NCIT: Infliximab; NCIT: Implantable Cardioverter-Defibrillator | No randomized standard-of-care trials for most agents; evidence mostly observational, with stronger support for AV block and LVEF stabilization than for mortality reduction (pqac-00000010) |
| Active experimental trials | Phase 2/2a studies are testing IL-1 and JAK-axis inhibition and new imaging approaches: rilonacept (REPAIR-CS), baricitinib, Tc-99m tilmanocept SPECT/CT, 64Cu-DOTATATE macrophage PET/CT, SGLT1/2-assisted myocardial glucose suppression for FDG-PET, PET/MRI prognostic studies, diagnostic-criteria and biomaterial registries, and a cardiac sarcoidosis QoL tool study | NCIT: Rilonacept; NCIT: Baricitinib; NCIT: Anakinra; NCIT: Single Photon Emission Computed Tomography; NCIT: Positron Emission Tomography/Magnetic Resonance Imaging | Most are early-phase, small, single-center, and without posted results yet; endpoints are commonly imaging-based rather than hard outcomes (pqac-00000014, pqac-00000015, pqac-00000016, pqac-00000017) |


*Table: This compact table summarizes the main knowledge-base domains for cardiac sarcoidosis, including disease definition, pathobiology, diagnostics, prognosis, treatment response, and ongoing trials. It is designed as a concise scaffold for a fuller cited report.*