Cardiac Sarcoidosis and Troponin T-Related Cardiomyopathy.

BACKGROUND

Cardiac sarcoidosis and genetic cardiomyopathy are both rare causes of heart disease with often similar presentations that can be difficult to diagnose.

CASE SUMMARY: We describe a previously healthy 43-year-old woman with progressive cardiomyopathy despite thorough investigation and several trials of therapy. She was eventually diagnosed with both cardiac sarcoidosis and a familial cardiac troponin type 2 (TNNT2) variant encoding cardiac troponin type 2.

DISCUSSION: Previous studies demonstrate that a proportion of patients diagnosed with isolated cardiac sarcoidosis or idiopathic myocarditis have pathogenic variants linked to genetic cardiomyopathy. Our case highlights the challenging journey of a patient who was eventually found to have both sarcoidosis and genetic cardiomyopathy, and we discuss relevant principles in diagnosing and managing these concurrent pathologies.