scholarly journals Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture

2011 ◽  
Vol 5 (2) ◽  
pp. 220-230 ◽  
Author(s):  
A. L. Lahti ◽  
V. J. Kujala ◽  
H. Chapman ◽  
A.-P. Koivisto ◽  
M. Pekkanen-Mattila ◽  
...  
Keyword(s):  
Cell Culture ◽  
Long Qt Syndrome ◽  
Ips Cells ◽  
Syndrome Type ◽  
Long Qt ◽  
Human Ips Cells ◽  
Qt Syndrome

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.

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 From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2

2019 ◽  
Vol 40 (23) ◽  
pp. 1832-1836 ◽  
Author(s):  
Peter J Schwartz ◽  
Massimiliano Gnecchi ◽  
Federica Dagradi ◽  
Silvia Castelletti ◽  
Gianfranco Parati ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Long Qt Syndrome ◽  
Pluripotent Stem Cells ◽  
Patient Specific ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome ◽  
Induced Pluripotent

scholarly journals Successful trans-maternal nadolol pharmacotherapy in a fetus presenting with long QT syndrome type 2 complicated by torsade de pointes

2020 ◽  
Vol 22 (6) ◽  
pp. 265-268
Author(s):  
Yuriko Shima ◽  
Hitoshi Horigome ◽  
Yoshihiro Nozaki ◽  
Lisheng Lin ◽  
Takumi Ishiodori ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Torsade De Pointes ◽  
Syndrome Type ◽  
Long Qt ◽  
Qt Syndrome

scholarly journals Multigenerational Inheritance of Long QT Syndrome Type 2 in a Japanese Family

2016 ◽  
Vol 55 (3) ◽  
pp. 259-262
Author(s):  
Mari Ichikawa ◽  
Seiko Ohno ◽  
Yusuke Fujii ◽  
Junichi Ozawa ◽  
Keiko Sonoda ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Long Qt ◽  
Japanese Family ◽  
Qt Syndrome

scholarly journals Generation of human induced pluripotent stem cell line from a patient with a long QT syndrome type 2

2016 ◽  
Vol 16 (2) ◽  
pp. 304-307 ◽  
Author(s):  
Azra Fatima ◽  
Dina Ivanyuk ◽  
Stefan Herms ◽  
Stefanie Heilmann-Heimbach ◽  
Orla O'Shea ◽  
...  
Keyword(s):  
Stem Cell ◽  
Long Qt Syndrome ◽  
Pluripotent Stem Cell ◽  
Induced Pluripotent Stem Cell ◽  
Syndrome Type ◽  
Stem Cell Line ◽  
Long Qt ◽  
Qt Syndrome ◽  
Induced Pluripotent

scholarly journals TRIGGER-SPECIFIC RISK FACTORS FOR CARDIAC EVENTS IN PATIENTS WITH THE CONGENITAL LONG-QT SYNDROME TYPE 2

2010 ◽  
Vol 55 (10) ◽  
pp. A130.E1215
Author(s):  
James A. Kim ◽  
Arthur J. Moss ◽  
Coeli M. Lopes ◽  
Scott McNitt ◽  
Jennifer L. Robinson ◽  
...  
Keyword(s):  
Risk Factors ◽  
Long Qt Syndrome ◽  
Syndrome Type ◽  
Cardiac Events ◽  
Long Qt ◽  
Specific Risk ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome
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