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 sev...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-07-01
|
| Series: | JACC: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666084925006576 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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. |
|---|---|
| ISSN: | 2666-0849 |