The importance of variant re-evaluation in massive parallel sequencing: results from hypertrophic cardiomyopathy genetic testing as an example

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The importance of variant re-evaluation in massive parallel sequencing: results from hypertrophic cardiomyopathy genetic testing as an example

Session: Arrhythmogenic channelopathies

Topic: Other Genetic Variants

Speaker: Doctor P. Norambuena (Prague, CZ)

Event: ESC Congress 2018

Congress Presentation

About the speaker

Doctor Patricia Alejandra Norambuena

Motol University Hospital, Prague (Czechia)

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5 more presentations in this session

Population based prevalence of Brugada syndrome in a young male population in southeast asia

Speaker: Doctor X. Shen (Singapore, SG)

Systematic re-evaluation of ion channel mutations associated with Brugada syndrome

Speaker: Doctor N. Denham (Toronto, CA)

A cellular model of Brugada Syndrome with CACNB2 mutation of human-induced pluripotent stem cell-derived cardiomyocytes

Speaker: Mrs T. Schimanski (DE)

10 years of follow-up in carriers of a RyR2 pathogenic mutation with uncertain penetrance. What have we learned?

Speaker: Doctor A. Cardenes Leon (Las Palmas de Gran Canaria, ES)

Novel SCN5A mutation associated with multifocal ectopic purkinje-related premature contractions

Speaker: Mr M. Holl (Rotterdam, NL)

Access the full session

Arrhythmogenic channelopathies

Speakers: Doctor P. Norambuena, Doctor X. Shen, Doctor N. Denham, Mrs T. Schimanski, Doctor A. Cardenes Leon...

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About the event

ESC Congress 2018

7 November - 29 August 2018

Sessions Presentations

Congress

The importance of variant re-evaluation in massive parallel sequencing: results from hypertrophic cardiomyopathy genetic testing as an example

About the speaker

Doctor Patricia Alejandra Norambuena

5 more presentations in this session

Population based prevalence of Brugada syndrome in a young male population in southeast asia

Systematic re-evaluation of ion channel mutations associated with Brugada syndrome

A cellular model of Brugada Syndrome with CACNB2 mutation of human-induced pluripotent stem cell-derived cardiomyocytes

10 years of follow-up in carriers of a RyR2 pathogenic mutation with uncertain penetrance. What have we learned?

Novel SCN5A mutation associated with multifocal ectopic purkinje-related premature contractions

Access the full session

Arrhythmogenic channelopathies

About the event

ESC Congress 2018

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