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Ca2+ current involvement in a KCNH2 mutation's phenotype and its modulation by estrogen.

Journal of molecular and cellular cardiology - 1 Aug 2026

Maniezzi C, Bastaroli F, Anzaldi I, Florindi C, Dusi V, Dosio A, Mura M, Tomek J, Matas J F Rodriguez, Lodola F, Gnecchi M, Zaza A

Abstract excerpt

BACKGROUND: Estrogens affect repolarization and may act as phenotype modifiers in long QT syndrome (LQTS). In a LQT2 patient with the G628S-KCNH2 mutation (normal CACNA1C genes) the occurrence of arrhythmia-related symptoms followed 17-β estradiol (E2) administration. This study aims to test whether a mechanistic link can be established between the two events. METHODS: Membrane potential, ICaL and IKr were...

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Action Potentials
Calcium
Calcium Channels, L-Type
ERG1 Potassium Channel
Estradiol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Long QT Syndrome

Myocytes, Cardiac

Source

Identifiers

PMID: 42413688
DOI: 10.1016/j.yjmcc.2026.07.004

Genes

KCNH2
CACNA1C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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