Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Calcium Release Deficiency Syndrome: A New Inherited Arrhythmia Syndrome.

Cardiac electrophysiology clinics - 1 Sept 2023

Kallas Dania, Roberts Jason D, Sanatani Shubhayan, Roston Thomas M

Abstract excerpt

Calcium release deficiency syndrome (CRDS) is a newly described form of inherited arrhythmia caused by damaging loss-of-function variants in the cardiac ryanodine receptor (RyR2). Unlike the prototypical RyR2 gain-of-function channelopathy, known as catecholaminergic polymorphic ventricular tachycardia, patients with CRDS are predisposed to sudden death usually in the absence of any electrical abnormalities at...

Topics

Join the communities discussing this publication.

Calcium
Electrocardiography
Flecainide
Mutation
Ryanodine Receptor Calcium Release Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tachycardia, Ventricular

Source

Identifiers

PMID: 37558302
DOI: 10.1016/j.ccep.2023.05.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Calcium Release Deficiency Syndrome: A New Inherited Arrhythmia Syndrome.PMID 37558302Read ↗

Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.Semantic proximity Read ↗

RYR2-ryanodinopathies: from calcium overload to calcium deficiency.Semantic proximity Read ↗

Cardiac ryanodine receptor calcium release deficiency syndrome.Semantic proximity Read ↗

Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.Semantic proximity Read ↗

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.Semantic proximity Read ↗

Current management of inherited arrhythmia syndromes associated with the cardiac ryanodine receptor.Semantic proximity Read ↗

Sarcoplasmic Reticulum Ca2+ Dysregulation in the Pathophysiology of Inherited Arrhythmia: An Update.Semantic proximity Read ↗

Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.Semantic proximity Read ↗

Inherited dysfunction of sarcoplasmic reticulum Ca2+ handling and arrhythmogenesis.Semantic proximity Read ↗

Molecular characterization of the calcium release channel deficiency syndrome.Semantic proximity Read ↗

Congenital long QT syndrome: severe torsades de pointes provoked by epinephrine in a digenic mutation carrier.Semantic proximity Read ↗

Calcium release channel deficiency syndrome in patients diagnosed with idiopathic ventricular fibrillation and decedents classified as sudden unexplained death in the young.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.