Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

A Novel SCN5A Variant Associated with Abnormal Repolarization, Atrial Fibrillation, and Reversible Cardiomyopathy

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Genetic Variant Score and Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Plakophilin-2 Mutation Carriers

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Predictors of 10-Year Stent-Related Adverse Outcomes after Coronary Drug-Eluting Stent Implantation: The Importance of Stent Size

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Plasma somatostatin in advanced heart failure: association with cardiac filling pressures and outcome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Gestational Age and Neonatal Electrocardiograms

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Effect of moderate potassium-elevating treatment in long QT syndrome: the TriQarr Potassium Study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. The evolution of the neonatal QRS axis during the first four weeks of life

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

A variety of life-threating arrhythmias are caused by mutations in the cardiac voltage-gated sodium channel encoded by the SCN5A gene. In this study, we report a novel loss-of-function SCN5A variant, p.Ile1343Val (c.4027A>G), identified in a 42-year-old proband who presented with an unusual ECG with abnormal repolarization with biphasic T-waves in anteroseptal leads, persistent atrial fibrillation (AF), intermittent left bundle branch block (LBBB), and reversible cardiomyopathy. The patient did not meet the diagnostic criteria for Brugada syndrome, long QT syndrome, or any other known SCN5A-associated phenotype. Characterization of the biophysical properties of the variant by in vitro patch clamp experiments revealed a reduced Na+ current with no effect on the inactivation kinetics of the channel. This loss-of-function of Na+ current could explain the intermittent LBBB as well as the AF. In conclusion, we describe a unique combination of electrical and structural abnormalities associated with a novel SCN5A variant. Our findings broaden the spectrum of cardiac phenotypes associated with SCN5A channelopathy, underlining the complex clinical manifestations of genetic variations within this gene.

OriginalsprogEngelsk
TidsskriftCardiology
Vol/bind140
Udgave nummer1
Sider (fra-til)8-13
Antal sider6
ISSN0008-6312
DOI
StatusUdgivet - 10 apr. 2018

ID: 56358871