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.

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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
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article

Multigenerational thyroid hormone resistance due to THRβ mutation

Stylianos Kopanos, Joachim Feldkamp
European Heart Journal - Case Reports
Thyroid Disorders and Treatments
article

Multigenerational thyroid hormone resistance due to THRβ mutation

Stylianos Kopanos, Joachim Feldkamp
article en

Abstract

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.

European Heart Journal - Case ReportsVol. 9(8)
Klinikum Bielefeld (DE)
Good health and well-being
Openalex Percentile: Top 72%
Thyroid Disorders and Treatments
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