Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.

doi:10.1111/jce.16770

Article

Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.

Journal of cardiovascular electrophysiology - 1 Sept 2025

Santoro Francesco, D'Apolito Maria, Ragnatela Ilaria, Ranaldi Alessandra, Margaglione Alessandra, D'Alessandro Damiano, Niglio Francesco Paolo, Santacroce Rosa, Cannito Sara, D'Andrea Giovanna, Pellegrino PierLuigi, Mazzanti Andrea, Di Biase Luigi, Margaglione Maurizio, Brunetti Natale Daniele

Abstract excerpt

AIMS: Genetic mutations involving sodium channel Nav 1.5 have been linked with Brugada Syndrome (BrS). Caveolin-3(CAV-3) is a protein that could modulate Nav1.5 function. Aim of the study is to characterize a multi-generational family with BrS and CAV-3 gene mutation. METHODS AND RESULTS: Clinical and genetic investigations were performed. Genetic testing was performed with whole-exome sequencing (WES). Variants...

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Female
Humans
Male
Middle Aged
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Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.

Abstract excerpt

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