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Case Report

Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation

by
Huei-Pin Lai
1 and
Mei-Hsiu Chen
1,2,*
1
Division of Endocrinology, Department of Internal Medicine, Far Eastern Memorial Hospital, New Taipei City 220, Taiwan
2
Department of Biomedical Engineering, Ming Chuang University, Taoyuan City 333, Taiwan
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2022, 23(23), 15241; https://doi.org/10.3390/ijms232315241
Submission received: 11 November 2022 / Revised: 25 November 2022 / Accepted: 30 November 2022 / Published: 3 December 2022
(This article belongs to the Special Issue Thyroid-Related Diseases: Molecular Pathology, Diagnosis and Treatment)
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Abstract

Resistance to thyroid hormone (RTH) is a rare disease typically associated with elevated levels of thyroid hormones and non-suppressed thyroid stimulating hormones. The most common cause of RTH is thyroid hormone receptor β (THRβ) gene mutation. Most individuals with RTH are considered clinical euthyroid. We report a family with a rare heterozygous point mutation, c.959G>T, (p.R320L) of the THRβ gene. The proband developed atrial fibrillation and life-threatening heart failure with pulmonary edema, which was quite different from previously reported THRβ gene mutations. Considering the rareness of RTH and the heterogeneity of its phenotypes, our report allows for a better understanding of the manifestation and management of patients with RTH and THRβ gene mutation.
Keywords: resistance to thyroid hormone; thyroid hormone receptor β gene mutation resistance to thyroid hormone; thyroid hormone receptor β gene mutation

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MDPI and ACS Style

Lai, H.-P.; Chen, M.-H. Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation. Int. J. Mol. Sci. 2022, 23, 15241. https://doi.org/10.3390/ijms232315241

AMA Style

Lai H-P, Chen M-H. Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation. International Journal of Molecular Sciences. 2022; 23(23):15241. https://doi.org/10.3390/ijms232315241

Chicago/Turabian Style

Lai, Huei-Pin, and Mei-Hsiu Chen. 2022. "Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation" International Journal of Molecular Sciences 23, no. 23: 15241. https://doi.org/10.3390/ijms232315241

APA Style

Lai, H.-P., & Chen, M.-H. (2022). Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation. International Journal of Molecular Sciences, 23(23), 15241. https://doi.org/10.3390/ijms232315241

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