Precision Medicine in Catecholaminergic Polymorphic Ventricular Tachycardia

Cardiac ryanodine receptor calcium release deficiency syndrome

(2021) Bo Sun et al.   Science Translational Medicine

The arrhythmogenic N53I variant subtly changes the structure and dynamics in the calmodulin N-terminal domain, altering its interaction with the cardiac ryanodine receptor

(2020) Christian Holt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

(2020) Damilola Olubando et al.   JOURNAL OF HUMAN GENETICS

Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

(2020) Andrea Mazzanti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

An International Multi-Center Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 - Catecholaminergic Polymorphic Ventricular Tachycardia

(2020) Kevin Ng et al.   CIRCULATION

Stabilizer Cell Gene Therapy: A Less-Is-More Strategy to Prevent Cardiac Arrhythmias

(2020) Michael B. Liu et al.   Circulation-Arrhythmia and Electrophysiology

Unnatural verticilide enantiomer inhibits type 2 ryanodine receptor-mediated calcium leak and is antiarrhythmic

(2019) Suzanne M. Batiste et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene Therapy for Catecholaminergic Polymorphic Ventricular Tachycardia by Inhibition of Ca 2+ /Calmodulin-Dependent Kinase II

(2019) Vassilios J. Bezzerides et al.   CIRCULATION

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

(2019) Lia Crotti et al.   EUROPEAN HEART JOURNAL

Interplay between triadin and calsequestrin in the pathogenesis of CPVT in mouse

(2019) Marine Cacheux et al.   MOLECULAR THERAPY

50 Years of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) – Time to Explore the Dark Side of the Moon

(2019) Andreas Pflaumer et al.   Heart Lung and Circulation

Structural Immaturity of Human iPSC-Derived Cardiomyocytes: In Silico Investigation of Effects on Function and Disease Modeling

(2018) Jussi T. Koivumäki et al.   Frontiers in Physiology

In Vivo Ryr 2 Editing Corrects Catecholaminergic Polymorphic Ventricular Tachycardia

(2018) Xiaolu Pan et al.   CIRCULATION RESEARCH

Viral delivered gene therapy to treat catecholaminergic polymorphic ventricular tachycardia (CPVT2) in mouse models

(2017) Efrat Kurtzwald-Josefson et al.   HEART RHYTHM

A cryo-EM–based model of phosphorylation- and FKBP12.6-mediated allosterism of the cardiac ryanodine receptor

(2017) Sonali Dhindwal et al.   Science Signaling

A cryo-EM–based model of phosphorylation- and FKBP12.6-mediated allosterism of the cardiac ryanodine receptor

(2017) Sonali Dhindwal et al.   Science Signaling

The Hope and Hype of CRISPR-Cas9 Genome Editing

(2017) Kiran Musunuru   JAMA Cardiology

Novel CPVT-Associated Calmodulin Mutation inCALM3(CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

(2016) Nieves Gomez-Hurtado et al.   Circulation-Arrhythmia and Electrophysiology

TECRL , a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

(2016) Harsha D Devalla et al.   EMBO Molecular Medicine

Nadolol decreases the incidence and severity of ventricular arrhythmias during exercise stress testing compared with β1-selective β-blockers in patients with catecholaminergic polymorphic ventricular tachycardia

(2016) Ida S. Leren et al.   HEART RHYTHM

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study)

(2015) Juan Jiménez-Jáimez et al.   AMERICAN JOURNAL OF CARDIOLOGY

Ablation of HRC alleviates cardiac arrhythmia and improves abnormal Ca handling in CASQ2 knockout mice prone to CPVT

(2015) Bin Liu et al.   CARDIOVASCULAR RESEARCH

The Mechanism of Flecainide Action in CPVT Does Not Involve a Direct Effect on RyR2

(2015) M. L. Bannister et al.   CIRCULATION RESEARCH

Catecholaminergic Polymorphic Ventricular Tachycardia in Children

(2015) Thomas M. Roston et al.   Circulation-Arrhythmia and Electrophysiology

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

(2015) Silvia G. Priori et al.   EUROPEAN HEART JOURNAL

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Gene therapy to treat cardiac arrhythmias

(2015) Rossana Bongianino et al.   Nature Reviews Cardiology

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function

(2015) Yan-Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Single Delivery of an Adeno-Associated Viral Construct to Transfer the CASQ2 Gene to Knock-In Mice Affected by Catecholaminergic Polymorphic Ventricular Tachycardia Is Able to Cure the Disease From Birth to Advanced Age

(2014) Marco Denegri et al.   CIRCULATION

Divergent Regulation of Ryanodine Receptor 2 Calcium Release Channels by Arrhythmogenic Human Calmodulin Missense Mutants

(2014) Hyun Seok Hwang et al.   CIRCULATION RESEARCH

Triadin regulates cardiac muscle couplon structure and microdomain Ca2+ signalling: a path towards ventricular arrhythmias

(2013) Nagesh Chopra et al.   CARDIOVASCULAR RESEARCH

Abnormal Propagation of Calcium Waves and Ultrastructural Remodeling in Recessive Catecholaminergic Polymorphic Ventricular Tachycardia

(2013) Nian Liu et al.   CIRCULATION RESEARCH

Efficacy of Implantable Cardioverter Defibrillators in Young Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

(2013) Christina Y. Miyake et al.   Circulation-Arrhythmia and Electrophysiology

Genome Engineering of Drosophila with the CRISPR RNA-Guided Cas9 Nuclease

(2013) Scott J. Gratz et al.   GENETICS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

CaMKII inhibition rectifies arrhythmic phenotype in a patient-specific model of catecholaminergic polymorphic ventricular tachycardia

(2013) E Di Pasquale et al.   Cell Death & Disease

Importance of Ventricular Tachycardia Storms Not Terminated by Implantable Cardioverter Defibrillators Shocks in Patients With CASQ2 Associated Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Ibrahim Marai et al.   AMERICAN JOURNAL OF CARDIOLOGY

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

(2012) Mette Nyegaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Viral Gene Transfer Rescues Arrhythmogenic Phenotype and Ultrastructural Abnormalities in Adult Calsequestrin-Null Mice With Inherited Arrhythmias

(2012) Marco Denegri et al.   CIRCULATION RESEARCH

CaMKII binding to GluN2B is critical during memory consolidation

(2012) Amy R Halt et al.   EMBO JOURNAL

The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands

(2012) Miyuki Hayashi et al.   EUROPACE

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Targeting intracellular calcium cycling in catecholaminergic polymorphic ventricular tachycardia: a theoretical investigation

(2011) Ruey J. Sung et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis

(2011) Silvia G. Priori et al.   CIRCULATION RESEARCH

Short Communication: Flecainide Exerts an Antiarrhythmic Effect in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia by Increasing the Threshold for Triggered Activity

(2011) Nian Liu et al.   CIRCULATION RESEARCH

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia

(2011) Raymond W. Sy et al.   HEART RHYTHM

Calsequestrin 2 deletion shortens the refractoriness of Ca2+ release and reduces rate-dependent Ca2+-alternans in intact mouse hearts

(2011) Dmytro Kornyeyev et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

So Little Source, So Much Sink: Requirements for Afterdepolarizations to Propagate in Tissue

(2010) Yuanfang Xie et al.   BIOPHYSICAL JOURNAL

Dantrolene, a Therapeutic Agent for Malignant Hyperthermia, Inhibits Catecholaminergic Polymorphic Ventricular Tachycardia in a RyR2R2474S/+ Knock-In Mouse Model

(2010) Shigeki Kobayashi et al.   CIRCULATION JOURNAL

Catecholaminergic Polymorphic Ventricular Tachycardia Is Caused by Mutation-Linked Defective Conformational Regulation of the Ryanodine Receptor

(2010) Hitoshi Uchinoumi et al.   CIRCULATION RESEARCH

Bidirectional ventricular tachycardia: Ping pong in the His–Purkinje system

(2010) Alex A. Baher et al.   HEART RHYTHM

Rough endoplasmic reticulum to junctional sarcoplasmic reticulum trafficking of calsequestrin in adult cardiomyocytes

(2010) Timothy P. McFarland et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Calmodulin kinase II inhibition prevents arrhythmias in RyR2R4496C+/− mice with catecholaminergic polymorphic ventricular tachycardia

(2010) Nian Liu et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Store overload-induced Ca2+release as a triggering mechanism for CPVT and MH episodes caused by mutations inRYRandCASQgenes

(2010) David H. MacLennan et al.   JOURNAL OF PHYSIOLOGY-LONDON

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Meiso Hayashi et al.   CIRCULATION

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

(2009) Hiroshi Watanabe et al.   NATURE MEDICINE

Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias

(2009) N. Chopra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin

(2008) Giorgia Valle et al.   BIOCHEMICAL JOURNAL

Unexpected Structural and Functional Consequences of the R33Q Homozygous Mutation in Cardiac Calsequestrin

(2008) Nicoletta Rizzi et al.   CIRCULATION RESEARCH

Calsequestrin isoforms localize to different ER subcompartments: Evidence for polymer and heteropolymer-dependent localization

(2008) Michelle L. Milstein et al.   EXPERIMENTAL CELL RESEARCH