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Can Systemic Sarcoidosis and Genetic Cardiomyopathy Coexist?

Research output: Contribution to journalArticlepeer-review

Abstract

Genetic cardiomyopathies and cardiac sarcoidosis share overlapping features, complicating diagnosis when both conditions coexist. We describe 3 patients with filamin C–associated, plakophilin-2–associated, and MYBPC3-associated cardiomyopathies who were later diagnosed with extracardiac sarcoidosis. Despite imaging findings concerning cardiac sarcoidosis, only 1 patient demonstrated active myocardial inflammation warranting immunosuppression; the others were managed as primary genetic cardiomyopathy. These cases illustrate the limited specificity of cardiac imaging in patients with known genetic cardiomyopathy and highlight the need for careful, individualized assessment to determine whether sarcoid inflammation contributes to arrhythmias or ventricular dysfunction.

Original languageEnglish (US)
Article number108741
JournalJACC: Case Reports
Volume31
Issue number29
DOIs
StatePublished - Jul 22 2026

Keywords

  • FDG-PET imaging
  • FLNC variant
  • PKP-2 variant
  • arrhythmogenic cardiomyopathy
  • cardiac sarcoidosis
  • extracardiac sarcoidosis
  • genetic cardiomyopathy
  • hypertrophic cardiomyopathy

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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