Ethnic Differences in Cardiac Potassium Channel Variants: Implications for Genetic Susceptibility to Sudden Cardiac Death and Genetic Testing for Congenital Long QT Syndrome

2003 ◽  
Vol 78 (12) ◽  
pp. 1479-1487 ◽  
Author(s):  
Michael J. Ackerman ◽  
David J. Tester ◽  
Gregg S. Jones ◽  
Melissa L. Will ◽  
Christopher R. Burrow ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Potassium Channel ◽  
Genetic Susceptibility ◽  
Ethnic Differences ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long 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 A Hiccup in Hiccup Management: Cardiac Arrest from Previously Undiagnosed Congenital Long QT Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Robert Hughes ◽  
Johnathan M. Sheele
Keyword(s):  
Cardiac Arrest ◽  
High Risk ◽  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Long Qt ◽  
Congenital Condition ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

We report the case of a person who went into cardiac arrest after being given chlorpromazine for hiccups and was subsequently diagnosed with congenital Long QT Syndrome. Long QT Syndrome is an uncommon, congenital condition that carries a high risk of sudden cardiac death. Clinicians need to recognize the risk that chlorpromazine may prolong the QTc and prepare to manage potential complications.

Sudden cardiac death in young athletes with long QT syndrome: the role of genetic testing and cardiovascular screening

2018 ◽  
Vol 127 (1) ◽  
pp. 43-53
Author(s):  
Umile Giuseppe Longo ◽  
Laura Risi Ambrogioni ◽  
Mauro Ciuffreda ◽  
Nicola Maffulli ◽  
Vincenzo Denaro
Keyword(s):  
Genetic Testing ◽  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Young Athletes ◽  
Long Qt ◽  
Cardiovascular Screening ◽  
Qt Syndrome

scholarly journals Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome

Circulation ◽  
2008 ◽  
Vol 117 (17) ◽  
pp. 2184-2191 ◽  
Author(s):  
Ilan Goldenberg ◽  
Arthur J. Moss ◽  
Derick R. Peterson ◽  
Scott McNitt ◽  
Wojciech Zareba ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

scholarly journals Obstructive Sleep Apnea in Patients with Congenital Long QT Syndrome: Implications for Increased Risk of Sudden Cardiac Death

SLEEP ◽  
2015 ◽  
Vol 38 (7) ◽  
pp. 1113-1119 ◽  
Author(s):  
Abu S. Shamsuzzaman ◽  
Virend K. Somers ◽  
Timothy K. Knilans ◽  
Michael J. Ackerman ◽  
Yu Wang ◽  
...  
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Long Qt ◽  
Obstructive Sleep ◽  
Increased Risk ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

A novel variant of RyR2 gene in a family misdiagnosed as congenital long QT syndrome: The importance of genetic testing

2020 ◽  
Vol 60 ◽  
pp. 8-11
Author(s):  
Konstantinos P. Letsas ◽  
Efstathia Prappa ◽  
George Bazoukis ◽  
Louiza Lioni ◽  
Malena P. Pantou ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Long Qt Syndrome ◽  
Long Qt ◽  
Novel Variant ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome
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