Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

doi:10.1016/j.hrthm.2025.11.017

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Article

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Heart rhythm - 1 Mar 2026

Delinière Antoine, Mulatier Chloé, Cheillan David, Gheurbi Farha, Buchy Marion, Dufay Nathalie, Moulin-Zinsch Anne, Bertail-Galoin Claire, Sabour Maëva, Aarab Mariama, Perouse de Montclos Thomas, Ouvrier-Buffet Diane, Boisson Aymeric, Stos Bertrand, Rharbaoui Mohamed, Remerand Ganaëlle, Barnerias Christine, Brassier Anaïs, Goldenberg Alice, Roubertie Agathe, Lion-François Laurence, Marignier Stéphanie, De Lonlay Pascale, Mochel Fanny, Navarro Vincent, Lespinasse James, Lacombe Didier, Touraine Renaud, Rheims Sylvain, des Portes Vincent, Chevalier Philippe, Curie Aurore

Abstract excerpt

BACKGROUND: Creatine transporter deficiency (CTD) is a rare X-linked disease caused by SLC6A8 variants, which impair ATP-dependent energy metabolism in neurons and myocytes. Although the neurologic and muscular manifestations are well characterized, the cardiac phenotype remains poorly understood. Early clinical reports and a transgenic mouse model have raised concerns about possible associations with corrected...

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Identifiers

PMID: 41242588
DOI: 10.1016/j.hrthm.2025.11.017

Genes

SLC6A8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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