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 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.

scholarly journals Risk of Aborted Cardiac Arrest or Sudden Cardiac Death During Adolescence in the Long-QT Syndrome

JAMA ◽  
2006 ◽  
Vol 296 (10) ◽  
pp. 1249 ◽  
Author(s):  
Jenny B. Hobbs ◽  
Derick R. Peterson ◽  
Arthur J. Moss ◽  
Scott McNitt ◽  
Wojciech Zareba ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Long Qt ◽  
Qt Syndrome

Anesthesia for Patients with Congenital Long QT Syndrome

2005 ◽  
Vol 102 (1) ◽  
pp. 204-210 ◽  
Author(s):  
Susan J. Kies ◽  
Christina M. Pabelick ◽  
Heather A. Hurley ◽  
Roger D. White ◽  
Michael J. Ackerman
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Cardiac Death ◽  
Anesthetic Management ◽  
Torsade De Pointes ◽  
Polymorphic Ventricular Tachycardia ◽  
Treatment Modalities ◽  
Beta Blockade ◽  
Long Qt ◽  
Qt Syndrome

Long QT syndrome is a malfunction of cardiac ion channels resulting in impaired ventricular repolarization that can lead to a characteristic polymorphic ventricular tachycardia known as torsades de pointes. Stressors, by increasing sympathetic tone, and drugs can provoke torsade de pointes, leading to syncope, seizures, or sudden cardiac death in these patients. Beta blockade, implantation of cardioverter defibrillators, and left cardiac sympathetic denervation are used in the treatment of these patients. However, these treatment modalities do not guarantee the prevention of sudden cardiac death. Certain drugs, including anesthetic agents, are known to contribute to QT prolongation. After reviewing the literature the authors give recommendations for the anesthetic management of these patients in the perioperative period.

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