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A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia.

Daniela Rossi | Lorenzo Gigli | Alessandra Gamberucci | Roberta Bordoni | Alessandro Pietrelli | Stefania Lorenzini | Enrico Pierantozzi | Giovanni Peretto | Gianluca De Bellis | Paolo Della Bella | Maurizio Ferrari | Vincenzo Sorrentino | Sara Benedetti | Simone Sala | Chiara Di Resta
Heart rhythm | 2020

Triadin is a protein expressed in cardiac and skeletal muscle that has an essential role in the structure and functional regulation of calcium release units and excitation-contraction coupling. Mutations in the triadin gene (TRDN) have been described in different forms of human arrhythmia syndromes with early onset and severe arrhythmogenic phenotype, including triadin knockout syndrome.

Pubmed ID: 31437535

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