Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.

Animals Arrhythmias, Cardiac / complications Calcium / metabolism Channelopathies Death, Sudden, Cardiac / etiology Flecainide Humans Metoprolol Mice Ryanodine Receptor Calcium Release Channel / genetics Tachycardia, Ventricular / genetics
arrhythmias calcium phenotype ryanodine receptor young adult

Journal

Circulation. Genomic and precision medicine
ISSN: 2574-8300
Titre abrégé: Circ Genom Precis Med
Pays: United States
ID NLM: 101714113

Informations de publication

Date de publication:
02 2022
Historique:
pubmed: 25 12 2021
medline: 6 5 2022
entrez: 24 12 2021
Statut: ppublish

Résumé

A novel familial arrhythmia syndrome, cardiac ryanodine receptor (RyR2) calcium release deficiency syndrome (CRDS), has recently been described. We evaluated a large and well characterized family to assess provocation testing, risk factor stratification and response to therapy in CRDS. We present a family with multiple unheralded sudden cardiac deaths and aborted cardiac arrests, primarily in children and young adults, with no clear phenotype on standard clinical testing. Genetic analysis, including whole genome sequencing, firmly established that a missense mutation in The Ala4142Thr mutation of

Sections du résumé

BACKGROUND
A novel familial arrhythmia syndrome, cardiac ryanodine receptor (RyR2) calcium release deficiency syndrome (CRDS), has recently been described. We evaluated a large and well characterized family to assess provocation testing, risk factor stratification and response to therapy in CRDS.
METHODS
We present a family with multiple unheralded sudden cardiac deaths and aborted cardiac arrests, primarily in children and young adults, with no clear phenotype on standard clinical testing.
RESULTS
Genetic analysis, including whole genome sequencing, firmly established that a missense mutation in
CONCLUSIONS
The Ala4142Thr mutation of

Identifiants

DOI: 10.1161/CIRCGEN.121.003589 PMID: 34949103
pubmed: 34949103
doi: 10.1161/CIRCGEN.121.003589
doi:

Substances chimiques

RyR2 protein, human 0
Ryanodine Receptor Calcium Release Channel 0
Metoprolol GEB06NHM23
Flecainide K94FTS1806
Calcium SY7Q814VUP

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

e003589

Subventions

Organisme : British Heart Foundation
ID : CH/1992001/6764
Pays : United Kingdom
Organisme : Department of Health [UK]
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : CIHR
ID : PJT-155940
Pays : Canada

Auteurs

Julian O M Ormerod (JOM)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine (J.O.M.O., E.O., H.W.), University of Oxford, United Kingdom.
Cardiac Rhythm Management Service, Oxford Heart Centre, John Radcliffe Hospital, United Kingdom (J.O.M.O., M.R.G., K.R.).
ORCID: 0000-0003-1612-8992

Elizabeth Ormondroyd (E)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine (J.O.M.O., E.O., H.W.), University of Oxford, United Kingdom.
ORCID: 0000-0002-9116-4064

Yanhui Li (Y)

Department of Physiology and Pharmacology, The Libin Cardiovascular Institute, University of Calgary, AB, Canada (Y.L., J.W., W.G., R.W., S.R.W.C.).
Department of Internal Medicine, Institute of Hypertension, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China (Y.L.).
ORCID: 0000-0002-5543-8363

John Taylor (J)

Oxford Medical Genetics Laboratories, Cardiac Service, Oxford University Hospitals NHS Trust, The Churchill Hospital, United Kingdom (J.T., C.N.S.S., K.M., J.C.T.).

Jinhong Wei (J)

Department of Physiology and Pharmacology, The Libin Cardiovascular Institute, University of Calgary, AB, Canada (Y.L., J.W., W.G., R.W., S.R.W.C.).
ORCID: 0000-0002-5251-9192

Wenting Guo (W)

Department of Physiology and Pharmacology, The Libin Cardiovascular Institute, University of Calgary, AB, Canada (Y.L., J.W., W.G., R.W., S.R.W.C.).
ORCID: 0000-0002-1370-7764

Ruiwu Wang (R)

Department of Physiology and Pharmacology, The Libin Cardiovascular Institute, University of Calgary, AB, Canada (Y.L., J.W., W.G., R.W., S.R.W.C.).

Caroline N S Sarton (CNS)

Oxford Medical Genetics Laboratories, Cardiac Service, Oxford University Hospitals NHS Trust, The Churchill Hospital, United Kingdom (J.T., C.N.S.S., K.M., J.C.T.).

Karen McGuire (K)

Oxford Medical Genetics Laboratories, Cardiac Service, Oxford University Hospitals NHS Trust, The Churchill Hospital, United Kingdom (J.T., C.N.S.S., K.M., J.C.T.).

Helene M P Dreau (HMP)

Molecular Diagnostic Centre, Department of Oncology (H.M.P.D.), University of Oxford, United Kingdom.

Jenny C Taylor (JC)

Oxford Biomedical Research Centre and Wellcome Centre for Human Genetics (J.C.T., H.W.), University of Oxford, United Kingdom.
Oxford Medical Genetics Laboratories, Cardiac Service, Oxford University Hospitals NHS Trust, The Churchill Hospital, United Kingdom (J.T., C.N.S.S., K.M., J.C.T.).

Matthew R Ginks (MR)

Cardiac Rhythm Management Service, Oxford Heart Centre, John Radcliffe Hospital, United Kingdom (J.O.M.O., M.R.G., K.R.).

Kim Rajappan (K)

Cardiac Rhythm Management Service, Oxford Heart Centre, John Radcliffe Hospital, United Kingdom (J.O.M.O., M.R.G., K.R.).
ORCID: 0000-0001-8996-2983

S R Wayne Chen (SRW)

Department of Physiology and Pharmacology, The Libin Cardiovascular Institute, University of Calgary, AB, Canada (Y.L., J.W., W.G., R.W., S.R.W.C.).
ORCID: 0000-0001-5808-0304

Hugh Watkins (H)

Division of Cardiovascular Medicine, Radcliffe Department of Medicine (J.O.M.O., E.O., H.W.), University of Oxford, United Kingdom.
Oxford Biomedical Research Centre and Wellcome Centre for Human Genetics (J.C.T., H.W.), University of Oxford, United Kingdom.
ORCID: 0000-0002-5287-9016

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › Facteurs biologiques › Facteurs de la coagulation sanguine › Calcium › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Canalopathies › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Mort › Mort subite › Mort subite cardiaque › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › Composés hétérocycliques › Composés hétéromonocycliques › Pipéridines › Flécaïnide › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › Composés chimiques organiques › Amines › Aminoalcools › Propanolamines › Phénoxypropanolamines › Métoprolol › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux calciques › Canal de libération du calcium du récepteur à la ryanodine › Provocation Testing and Therapeutic Response...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Troubles du rythme cardiaque › Tachycardie › Tachycardie ventriculaire › Provocation Testing and Therapeutic Response...