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Article

MTMR4 variants have opposite gene-specific impact on life-threatening arrhythmic risk in type 1 and 2 long QT syndrome.

European heart journal - 22 Sept 2026

Schwartz Peter J, Winbo Annika, Sala Luca, Crotti Lia, Musu Giulia, Dagradi Federica, Giovenzana Fulvio L F, Dragani Davide F, Simonyté Sjödin Kotryna, Lundström Jenny, Alberio Chiara, Pedrazzini Matteo, Nearing Bruce D, Rydberg Annika, Tse Hung-Fat, Badilini Fabio, Verrier Richard L, Spazzolini Carla, Gnecchi Massimiliano

Abstract excerpt

BACKGROUND AND AIMS: Modifier genes may cause different clinical phenotypes in patients with long QT syndrome (LQTS) carrying the same pathogenic variant. Variants in the MTMR4 gene have been previously associated, via patient-specific cardiomyocytes derived from induced pluripotent stem cells, with variable arrhythmic risk in a family with the p.Y111C-LQT1 mutation. This study aimed to evaluate the broader...

Read the complete abstract on PubMed

Topics

Humans
Female
Long QT Syndrome
Male
Romano-Ward Syndrome

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Adolescent

Genotype

Electrocardiography

Middle Aged

Mutation

Phenotype

Child

Young Adult

Death, Sudden, Cardiac

Genes, Modifier

Carrier Proteins

Muscle Proteins

Source

Identifiers

PMID: 42128250
DOI: 10.1093/eurheartj/ehag294

Genes

MTMR4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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