ESC 365 - Doctor Keiko Sonoda

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Doctor Keiko Sonoda

National Cerebral & Cardiovascular Center, Suita (Japan)

Amplicon-based long-read sequencing is useful for confirming zygosity of DSG2 variants associated with Japanese ARVC.

Event: ESC Congress 2024

Topic: Arrhythmogenic Right Ventricular Cardiomyopathy

Session: Hypertrophic and other cardiomyopathies: miscellaneous findings

Homozygous or compound heterozygous variants in DSG2 are mainly causative of Japanese arrhythmogenic right ventricular cardiomyopathy.

Event: ESC Congress 2023

Topic: Arrhythmogenic Right Ventricular Cardiomyopathy

Session: Ventricular arrhythmias and sudden cardiac death in cardiomyopathies

Different prognosis of ARVC patients between DSG2 and PKP2 variant carriers

Event: ESC Congress 2022

Topic: Arrhythmogenic Right Ventricular Cardiomyopathy

Session: Genes and cardiomyopathies

Early onset of heart failure in Japanese ARVC patients with pathogenic desmosomal gene variants

Event: ESC Congress 2021 - The Digital Experience

Topic: Arrhythmogenic Right Ventricular Cardiomyopathy

Session: Myocardial and pericardial disease e-posters

Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect

Event: ESC Congress 2020

Topic: Congenital Heart Disease

Session: Basic Science Cardiac ePosters

Copy number variations in SCN5A associated with Brugada syndrome

Event: ESC Congress 2016

Topic: Genetic aspects of arrhythmias

Session: Best Posters in mechanisms of arrhythmias

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