JACC. Case reports · 2025
Cardiac Sarcoidosis and Troponin T-Related Cardiomyopathy.
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Yu Alec Chu Ming, Sedlic Anto, Singh Harmanjot, Darras Kathryn, Clarke Brian, Roston Thomas M
Аннотация
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.
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.