Sodium channel blockers in the management of long QT syndrome type 3 and type 2: a system review and meta‐analysis

2021 ◽  
Author(s):  
Ying Yang ◽  
Ting‐ting Lv ◽  
Si‐yuan Li ◽  
Ping Zhang
Keyword(s):  
Sodium Channel ◽  
Long Qt Syndrome ◽  
Meta Analysis ◽  
Channel Blockers ◽  
Syndrome Type ◽  
Long Qt ◽  
System Review ◽  
Qt Syndrome ◽  
Type 3

scholarly journals GW28-e0214 Clinical and genetic investigation for long QT syndrome type 3: Meta-Analysis

2017 ◽  
Vol 70 (16) ◽  
pp. C184-C185
Author(s):  
Kun Li ◽  
Jing Yang ◽  
Fei She ◽  
Yuanwei Liu ◽  
Rong He ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Meta Analysis ◽  
Syndrome Type ◽  
Genetic Investigation ◽  
Long Qt ◽  
Qt Syndrome ◽  
Type 3

scholarly journals A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Hyun Sok Yoo ◽  
Nancy Medina ◽  
María Alejandra von Wulffen ◽  
Natalia Ciampi ◽  
Analia Paolucci ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Frameshift Mutation ◽  
Alpha Subunit ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Abstract Background The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant of KCNH2 gene manifest a phenotype characterized by prolongation of QT interval and increased risk of sudden cardiac death due to life-threatening ventricular tachyarrhythmias. Results A family composed of 17 members with a family history of sudden death and recurrent syncopes was studied. The DNA of proband with clinical manifestations of long QT syndrome was analyzed using a massive DNA sequencer that included the following genes: KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, ANK2, KCNJ2, CACNA1, CAV3, SCN1B, SCN4B, AKAP9, SNTA1, CALM1, KCNJ5, RYR2 and TRDN. DNA sequencing of proband identified a novel pathogenic variant of KCNH2 gene produced by a heterozygous frameshift mutation c.46delG, pAsp16Thrfs*44 resulting in the synthesis of a truncated alpha subunit of the Kv11.1 ion channel. Eight family members manifested the phenotype of long QT syndrome. The study of family segregation using Sanger sequencing revealed the identical variant in several members of the family with a positive phenotype. Conclusions The clinical and genetic findings of this family demonstrate that the novel frameshift mutation causing haploinsufficiency can result in a congenital long QT syndrome with a severe phenotypic manifestation and an elevated risk of sudden cardiac death.

Diagnosis of epilepsy using an implantable loop recorder in a child with long-QT syndrome type 3

2013 ◽  
Vol 55 (2) ◽  
pp. 251-253 ◽  
Author(s):  
Kazuhiro Takahashi ◽  
Akira Miyake ◽  
Yoshimitsu Otsuka ◽  
Masaharu Ohfu ◽  
Hitoshi Ganaha
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Implantable Loop Recorder ◽  
Long Qt ◽  
Loop Recorder ◽  
Qt Syndrome ◽  
Type 3

Hypernatremia and Intercalated Disc Edema Synergistically Exacerbate Long QT Syndrome Type 3 Phenotype

2021 ◽  
Author(s):  
Xiaobo Wu ◽  
Gregory S. Hoeker ◽  
Grace Blair ◽  
David Ryan King ◽  
Robert G. Gourdie ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Sodium Concentration ◽  
Syndrome Type ◽  
Intercalated Disc ◽  
Long Qt ◽  
Disc Edema ◽  
Cardiac Edema ◽  
Qt Syndrome ◽  
Extracellular Sodium ◽  
Type 3

Background: Cardiac voltage-gated sodium channel gain-of-function prolongs repolarization in the Long-QT Syndrome Type 3 (LQT3). Previous studies suggest that narrowing the perinexus within the intercalated disc, leading to rapid sodium depletion, attenuates LQT3-associated action potential duration (APD) prolongation. However, it remains unknown whether extracellular sodium concentration modulates APD prolongation during sodium channel gain-of-function. We hypothesized that elevated extracellular sodium concentration and widened perinexus synergistically prolong APD in LQT3. Methods and Results: LQT3 was induced with anemone toxin type II (ATXII) in Langendorff-perfused guinea pig hearts (n=20). Sodium concentration was increased from 145 to 160 mM. Perinexal expansion was induced with mannitol or the sodium channel β1-subunit adhesion domain antagonist (βadp1). Epicardial ventricular action potentials were optically mapped. Individual and combined effects of varying clefts and sodium concentrations were simulated in a computational model. With ATXII, both mannitol and βadp1 significantly widened the perinexus and prolonged APD, respectively. The elevated sodium concentration alone significantly prolonged APD as well. Importantly, the combination of elevated sodium concentration and perinexal widening synergistically prolonged APD. Computational modeling results were consistent with animal experiments. Conclusions: Concurrently elevating extracellular sodium and increasing intercalated disc edema prolongs repolarization more than the individual interventions alone in the LQT3. This synergistic effect suggests an important clinical implication that hypernatremia in the presence of cardiac edema can markedly increase LQT3-associated APD prolongation. Therefore, this is the first study to provide evidence of a tractable and effective strategy to mitigate LQT3 phenotype by managing patient sodium levels and preventing cardiac edema.

scholarly journals Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy

2016 ◽  
Vol 13 (3) ◽  
pp. 2467-2475 ◽  
Author(s):  
GUOLIANG LI ◽  
RUI SHI ◽  
JINE WU ◽  
WENQI HAN ◽  
AIFENG ZHANG ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome

scholarly journals Complexity of ranolazine and phenytoin use in an infant with long QT syndrome type 3

2017 ◽  
Vol 3 (1) ◽  
pp. 104-108 ◽  
Author(s):  
Reina Bianca Tan ◽  
Sujata Chakravarti ◽  
Melissa Busovsky-McNeal ◽  
Abigail Walsh ◽  
Frank Cecchin
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Type 3
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