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Diagnostic Approach to Cardiac Sarcoidosis
Jukka Lehtonen1, David H Birnie2
1Heart and Lung Center, Helsinki University Hospital and University of Helsinki, Finland (J.L.).
Circulation
|July 20, 2026
Summary
Diagnosing cardiac sarcoidosis, a heart condition causing arrhythmias and heart failure, remains difficult. This primer offers a structured approach integrating advanced imaging and genetic evaluation for better diagnosis.
Area of Science:
- Cardiology
- Immunology
- Genetics
Background:
- Cardiac sarcoidosis is a serious inflammatory heart condition with high risks of arrhythmias, heart failure, and sudden death.
- Current diagnostic methods lack sufficient sensitivity and specificity, leading to challenges and discordant diagnoses.
- Genetic cardiomyopathies are often mistaken for isolated cardiac sarcoidosis, complicating diagnosis.
Purpose of the Study:
- To organize a diagnostic approach for cardiac sarcoidosis in two key clinical contexts: de novo cardiac presentation and screening in patients with known sarcoidosis.
- To present a 5-step pathway integrating advanced imaging, genetic evaluation, and tissue acquisition.
- To address the diagnostic challenges of isolated cardiac sarcoidosis.
Main Methods:
- Review and synthesis of current diagnostic guidelines and expert opinions.
- Integration of advanced imaging modalities like cardiac MRI and FDG-PET.
- Consideration of endomyocardial biopsy and genetic testing in specific clinical scenarios.
Main Results:
- Concordant advanced imaging findings are sufficient for diagnosis in non-urgent cases.
- Endomyocardial biopsy is reserved for inconclusive imaging or when giant cell myocarditis needs exclusion.
- A 5-step pathway is proposed for challenging cases of isolated cardiac sarcoidosis.
Conclusions:
- A systematic, integrated diagnostic approach is crucial for accurate cardiac sarcoidosis diagnosis.
- Advanced imaging should guide management, preceding device implantation in de novo cases.
- Further prospective validation of diagnostic strategies is needed.
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