Multigenerational thyroid hormone resistance due to THRβ mutation
This case emphasizes the rarity and clinical significance of RTH as a potential aetiology in refractory cardiac failure. Cardiologists should maintain a high index of suspicion for thyroid dysfunction in unexplained or treatment-resistant cardiomyopathy, particularly when associated with familial thyroid disorders or arrhythmias. Early diagnosis and a multidisciplinary approach involving endocrinology and cardiology are essential for improving outcomes and tailored therapeutic strategies for patients with RTH-related cardiomyopathy.
Authors
- Stylianos Kopanos (ORCID: https://orcid.org/0009-0002-8318-5233)
- Joachim Feldkamp (ORCID: https://orcid.org/0000-0002-5216-3851)
Institutions
- Klinikum Bielefeld (DE)
Publication Details
- Journal
- European Heart Journal - Case Reports
- Published
- 2025-07-14
- DOI
- https://doi.org/10.1093/ehjcr/ytaf338
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00