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A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?

Archives of endocrinology and metabolism - 18 Jan 2023

Franceschi Roberto, Maines Evelina, Bellizzi Maria, Rivieri Francesca, Bacca Andrea, Filippi Alessandra, Valente Enza Maria, Plumari Massimo, Soffiati Massimo, Vincenzi Monica, Teofoli Francesca, Camilot Marta

Abstract excerpt

Congenital hypothyroidism (CH) may be caused by biallelic variants in the TSHR gene. CH due to thyroid dysgenesis has also been linked to pathogenic variants of the nucleotide kinase 2, homeobox 5 (NKX2-5) gene, which can also cause sudden cardiac death from ventricular arrhythmia. In particular, the NKX2-5 p.Arg25Cys missense variant has been repeatedly reported in patients with congenital heart defects and,...

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Identifiers

PMID: 36468928
DOI: 10.20945/2359-3997000000546
PMCID: PMC9983796

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