Impact of Resistance to Thyroid Hormone on the Cardiovascular System in Adults

Pulcrano, Melania; Palmieri, Emiliano Antonio; Mannavola, Deborah; Ciulla, Michele M.; Campi, Irene; Covelli, Danila; Lombardi, Gaetano; Biondi, Bernadette; Beck‐Peccoz, Paolo

doi:10.1210/jc.2009-0096

Cited by 17 publications

(4 citation statements)

References 36 publications

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“…In asymptomatic patients, Pulcrano et al, although, report the presence of echocardiographic signs similar to those reported in hypothyroid patients [ 20 ].…”

Section: Discussionmentioning

confidence: 57%

Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review

Anyfantakis

Vourliotaki

2016

Case Reports in Endocrinology

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Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH. We present two cases of RTH diagnosed after total thyroidectomy. The first patient was initially diagnosed with primary hyperthyroidism due to toxic multinodular goiter. The second patient had undergone thyroidectomy for multinodular goiter 16 years before diagnosis of RTH. After thyroidectomy, although on relatively high doses of levothyroxine, both of them presented with the laboratory findings of RTH. Genetic analysis revealed RTH.

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“…In asymptomatic patients, Pulcrano et al, although, report the presence of echocardiographic signs similar to those reported in hypothyroid patients [ 20 ].…”

Section: Discussionmentioning

confidence: 57%

Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review

Anyfantakis

Vourliotaki

2016

Case Reports in Endocrinology

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“…In our cases, the cardiac symptoms could only be relieved by the combination of carbimazole and propranolol. Electrocardiogram and echocardiography every 2–3 years were recommended in symptomatic patients [ 13 ]. However, in our experience, regular electrocardiograms and echocardiography should be performed in older patients without any symptoms.…”

Section: Discussionmentioning

confidence: 99%

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

Lai

Chen

2022

IJMS

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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.

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“…One study suggested an increased incidence of mitral valve prolapse among RTH β subjects. Finally, a reduced whole-body insulin sensitivity and dyslipidemia have been documented in a number of patients, suggesting an increased cardiovascular risk in RTH β (Kahaly et al 2002 ;Pulcrano et al 2009 ;Owen et al 2009 ).…”

Section: Cardiovascular Symptomsmentioning

confidence: 99%

Using Mouse Genetics to Investigate Thyroid Hormone Signaling in the Developing and Adult Brain

Chatonnet

Richard

Flamant

2016

Contemporary Clinical Neuroscience

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Impact of Resistance to Thyroid Hormone on the Cardiovascular System in Adults

Cited by 17 publications

References 36 publications

Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review

Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review

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

Using Mouse Genetics to Investigate Thyroid Hormone Signaling in the Developing and Adult Brain

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