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Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9120385

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

About this item

Full title

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

Publisher

England: BMJ Publishing Group Ltd and British Cardiovascular Society

Journal title

Heart (British Cardiac Society), 2022-06, Vol.108 (11), p.840-847

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd and British Cardiovascular Society

More information

Scope and Contents

Contents

ObjectiveHuman cardiac ryanodine receptor 2 (RYR2) shows autosomal-dominant inheritance in catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1); however, de novo variants have been observed in sporadic cases. Here, we investigated CPVT1-related RYR2 variant inheritance and its clinical significance between familial and de novo cases...

Alternative Titles

Full title

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9120385

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9120385

Other Identifiers

ISSN

1355-6037

E-ISSN

1468-201X

DOI

10.1136/heartjnl-2021-320220

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