Cardiac Sarcoidosis Diagnosis and Management

Cardiac sarcoidosis is a potentially life-threatening manifestation of systemic sarcoidosis characterised by non-necrotising granulomatous infiltration of the myocardium. Clinical presentations range from asymptomatic conduction abnormalities to ventricular arrhythmias, heart block and heart failure. Diagnosis relies on a combination of clinical assessment, electrocardiography, ambulatory rhythm monitoring, echocardiography and advanced imaging. Cardiac magnetic resonance imaging with late gadolinium enhancement delineates areas of scarring and oedema, while 18F-fluorodeoxyglucose positron emission tomography identifies active inflammation when myocardial uptake is suppressed by dietary preparation. Endomyocardial biopsy provides histological confirmation but may be limited by sampling error. Management is guided by multidisciplinary evaluation and centres on immunosuppression—typically high-dose corticosteroids with steroid-sparing agents—together with device therapy for bradyarrhythmias or implantable cardioverter-defibrillators for ventricular tachyarrhythmias. Regular imaging follow-up and arrhythmia surveillance enable treatment adjustment and early detection of progression or relapse.

Research from Nature Portfolio

Recent genome-wide association analyses have uncovered over two dozen loci linked to sarcoidosis susceptibility, illuminating pathways of T-cell activation, leukocyte adhesion and cytokine signalling. Integration of transcriptome-wide association studies and Mendelian randomisation has identified tissue-specific gene expression signatures in immune organs and the myocardium, suggesting circulating biomarkers that may predict cardiac involvement. These findings open prospects for genetic risk stratification and for targeted modulation of molecular pathways to prevent or mitigate myocardial inflammation.

Cardiac Sarcoidosis Diagnosis and Management publication trend

The graph below shows the total number of articles in cardiac sarcoidosis diagnosis and management across all publications each year (not limited to Nature Index journals).

Technical terms

18F-FDG positron emission tomography (FDG-PET): A nuclear imaging technique that measures glucose metabolism to identify inflammatory foci in the myocardium.

Late gadolinium enhancement (LGE): A cardiac magnetic resonance sequence that highlights areas of myocardial fibrosis or scarring.

Endomyocardial biopsy: A percutaneous procedure to obtain myocardial tissue samples for histological confirmation of non-necrotising granulomas.

Granuloma: A compact collection of activated macrophages and T lymphocytes characteristic of sarcoid inflammation.

mTOR pathway: A signalling cascade involved in cell growth and immune activation, implicated in granuloma formation in sarcoidosis.

References

1. GWAS identifies genetic loci, lifestyle factors and circulating biomarkers that are risk factors for sarcoidosis. Nature Communications (2025).
2. The effects of 18-h fasting with low-carbohydrate diet preparation on suppressed physiological myocardial 18F-fluorodeoxyglucose (FDG) uptake and possible minimal effects of unfractionated heparin use in patients with suspected cardiac involvement sarcoidosis. Journal of Nuclear Cardiology (2015).
3. Biomarkers in the Diagnosis and Prognosis of Sarcoidosis: Current Use and Future Prospects. Frontiers in Immunology (2020).
4. Sarcoidosis: Causes, Diagnosis, Clinical Features, and Treatments. Journal of Clinical Medicine (2020).