Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.

doi:10.1093/cvr/cvaf135

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Article

Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants.

Cardiovascular research - 29 Sept 2025

Ishikawa Taisuke, Kimoto Hiroki, Seki Akiko, Shirai Manabu, Uto Kenta, Makiyama Takeru, Kitai Takeshi, Mishima Hiroyuki, Trujillano Daniel, Simonet Floriane, Baron Estelle, Lindenbaum Pierre, Kyndt Florence, Goudal Adeline, Fukushima Norihide, Fujita Tomoyuki, Hatakeyama Kinta, Hagiwara Nobuhisa, Yoshiura Koh-Ichiro, Redon Richard, Dina Christian, Estivill Xavier, Ossowski Stephan, Courtheix Mathieu, Probst Vincent, Barc Julien, Schott Jean-Jacques, Makita Naomasa

Abstract excerpt

AIMS: Truncating variations in the titin gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) and have been implicated in various arrhythmic and heart failure phenotypes. Nonetheless, predicting the pathogenicity of a distinct subtype of TTNtv, canonical splice-site variations (TTNcsv), remains challenging. Furthermore, the precise transcriptional and phenotypic consequences associated...

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PMID: 40757694
DOI: 10.1093/cvr/cvaf135

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