scholarly journals The Substrate of Sudden Death in Long-QT Syndrome is localized in the Epicardium

2021 ◽  
Author(s):  
Carlo Pappone ◽  
Giuseppe Ciconte ◽  
Luigi Anastasia ◽  
Valeria Borrelli ◽  
Edward Grant ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Long Qt ◽  
New Approach ◽  
Life Threatening ◽  
Qt Syndrome ◽  
The Right ◽  
Malignant Arrhythmias ◽  
Apparently Healthy

Despite significant advances in the prevention of cardiovascular diseases, sudden cardiac death (SCD) persists as a major public health problem. Among young and apparently healthy individuals, Long-QT syndrome (LQTS) represents a leading progenitor of SCD owing to fatal ventricular arrhythmia. Scientific understanding has of this association has grown in recent years, and the mortality rate after LQTS diagnosis has significantly decreased. However, despite medical treatment advances, life-threatening ventricular arrhythmias still occur. Until now, no research has established the degree to which this inherited condition arises from an underlying arrhythmogenic electroanatomical substrate. Here, we present direct evidence showing that LQTS patients who survive spontaneous malignant arrhythmias harbor structural electrophysiological abnormalities localized in the epicardium of the right ventricle. We further show that the elimination of these abnormalities by means of catheter ablation successfully suppresses malignant arrhythmias, offering a new approach for the effective treatment of LQTS patients.

scholarly journals FUNCTIONAL EFFECTS OF SCN5A CHANNEL MUTATIONS AND THE RISK OF LIFE-THREATENING EVENTS IN TYPE 3 LONG QT SYNDROME

2016 ◽  
Vol 67 (13) ◽  
pp. 2340
Author(s):  
Yitschak Biton ◽  
Neils Otani ◽  
Ilan Goldenberg ◽  
Elsa Ronzier ◽  
Jayson Baman ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Life Threatening ◽  
Qt Syndrome ◽  
Type 3

scholarly journals 102-06: Risk of Life-Threatening Cardiac Events in Some Long QT Syndrome Patients Treated with β-Blockers

EP Europace ◽  
2016 ◽  
Vol 18 (suppl_1) ◽  
pp. i85-i85
Author(s):  
Yitschak Biton ◽  
Ilan Goldenberg ◽  
Wojciech Zareba ◽  
Kutyifa Valentina ◽  
Arthur J. Moss
Keyword(s):  
Long Qt Syndrome ◽  
Cardiac Events ◽  
Long Qt ◽  
Life Threatening ◽  
Β Blockers ◽  
Qt Syndrome

scholarly journals Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2

2010 ◽  
Vol 88 (12) ◽  
pp. 1181-1190 ◽  
Author(s):  
Jonathan M. Cordeiro ◽  
Guillermo J. Perez ◽  
Nicole Schmitt ◽  
Ryan Pfeiffer ◽  
Vladislav V. Nesterenko ◽  
...  
Keyword(s):  
Patch Clamp ◽  
Long Qt Syndrome ◽  
Loss Of Function ◽  
Long Qt ◽  
Tail Current ◽  
Qt Intervals ◽  
Ventricular Extrasystoles ◽  
Current Voltage ◽  
Life Threatening ◽  
Qt Syndrome

Long QT syndrome (LQTS) is an inherited disorder characterized by prolonged QT intervals and potentially life-threatening arrhythmias. Mutations in 12 different genes have been associated with LQTS. Here we describe a patient with LQTS who has a mutation in KCNQ1 as well as a polymorphism in KCNH2. The proband (MMRL0362), a 32-year-old female, exhibited multiple ventricular extrasystoles and one syncope. Her ECG (QT interval corrected for heart rate (QTc) = 518ms) showed an LQT2 morphology in leads V4–V6 and LQT1 morphology in leads V1–V2. Genomic DNA was isolated from lymphocytes. All exons and intron borders of 7 LQTS susceptibility genes were amplified and sequenced. Variations were detected predicting a novel missense mutation (V110I) in KCNQ1, as well as a common polymorphism in KCNH2 (K897T). We expressed wild-type (WT) or V110I Kv7.1 channels in CHO-K1 cells cotransfected with KCNE1 and performed patch-clamp analysis. In addition, WT or K897T Kv11.1 were also studied by patch clamp. Current–voltage (I-V) relations for V110I showed a significant reduction in both developing and tail current densities compared with WT at potentials >+20 mV (p < 0.05; n = 8 cells, each group), suggesting a reduction in IKs currents. K897T- Kv11.1 channels displayed a significantly reduced tail current density compared with WT-Kv11.1 at potentials >+10 mV. Interestingly, channel availability assessed using a triple-pulse protocol was slightly greater for K897T compared with WT (V0.5 = –53.1 ± 1.13 mV and –60.7 ± 1.15 mV for K897T and WT, respectively; p < 0.05). Comparison of the fully activated I-V revealed no difference in the rectification properties between WT and K897T channels. We report a patient with a loss-of-function mutation in KCNQ1 and a loss-of-function polymorphism in KCNH2. Our results suggest that a reduction of both IKr and IKs underlies the combined LQT1 and LQT2 phenotype observed in this patient.

scholarly journals Jervell and Lange-Nielsen syndrome. Family case (clinical observation)

2020 ◽  
pp. 88-92
Author(s):  
T.V. Tolstikova ◽  
◽  
L.V. Bregel ◽  
S.V. Czurkan ◽  
T.P. Marchuk ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Long Qt Syndrome ◽  
Qt Interval ◽  
Cardiac Death ◽  
Clinical Observation ◽  
Long Qt ◽  
Bilateral Hearing Loss ◽  
Life Threatening ◽  
Family Case ◽  
Qt Syndrome

A clinical family case of Jervell and Lange-Nielsen syndrome in 2 children is presented. Long QT syndrome is one of the leading causes of sudden cardiac death in children. Jervell and Lange-Nielsen syndrome is one of the most severe and rare types of long QT syndrome. Symptoms of the disease appear in infancy; they are characterized by a lengthening of QT interval on ECG, syncope as a result of life-threatening ventricular tachycardia and ventricular fibrillation, combined with congenital bilateral hearing loss.

scholarly journals TACTICS OF PRENATAL CARE OF A YOUNG PATIENT WITH INHERITED LONG QT SYNDROME AND IMPLANTED CARDIOVERTER-DEFIBRILLATOR

2018 ◽  
Vol 3 (4) ◽  
pp. 63-67
Author(s):  
R B Tatarsky ◽  
V K Lebedeva ◽  
T A Lubimtseva ◽  
S V Gureev ◽  
D S Lebedev ◽  
...  
Keyword(s):  
Prenatal Care ◽  
Long Qt Syndrome ◽  
Post Partum ◽  
Shock Therapy ◽  
Clinical Situation ◽  
Positive Influence ◽  
Long Qt ◽  
Cardioverter Defibrillator ◽  
Life Threatening ◽  
Qt Syndrome

Ase report. This clinical case illustrates the example of prenatal care of a young woman with verified long QT syndrome (LQTS) type 2 with implanted cardioverter-defibrillator (ICD). In the course of pregnancy she had physiological sinus tachycardia, though the life-threatening ventricular arrhythmias and ICD shocks were not registered. On the 38th week of pregnancy the woman underwent the planned caesarean delivery (due to obstetrics indications) with live child. In the post-partum period she continued to experience recurrent VF episodes terminated after the adequate ICD shocks. Life-threatening arrhythmias were triggered by group PVC registered in the settings of persistent bradycardia. At the moment the number of the adequate ICD shocks reduced supported by betablocker therapy, the patient remains on continued standard monitoring. Discussion. Numerous cases of favourable course and even benefits in clinical and functional status during pregnancy in patients with LQTS are reported. This fact can be conditioned by the positive influence of physiological hemodynamical changes and hypersympathicotonia during pregnancy especially on the bradydependent arrhytmias. Conclusion. Pregnancy in patients with inherited LQTS and implanted ICDs is not always contraindicated and treatment tactics depends on certain clinical situation. Algorithms of pharmacological and shock therapy during pregnancy in women with ICD are corrected individually.

scholarly journals Pregnancy in long QT syndrome with implantable cardioverter-defibrillator. A case report and review of the literature

2014 ◽  
Vol 20 (1) ◽  
pp. 1-4
Author(s):  
Sandra Kutkiene˙ ◽  
Lina Gumbiene ◽  
Juratę Aganauskiene ◽  
Rima Steponenienea ◽  
Germanas Marinskisa ◽  
...  
Keyword(s):  
Implantable Cardioverter Defibrillator ◽  
Long Qt Syndrome ◽  
Ventricular Arrhythmias ◽  
Long Qt ◽  
Cardioverter Defibrillator ◽  
Pregnancy And Delivery ◽  
Life Threatening ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

Summary Implantable cardioverters-defibrillators have decreasedmorbidity and mortality as well as improved quality of life in patients with life-threatening cardiac arrhythmias and allowed an increasing number of young women to reach their reproductive years. New questions and tasks arise for medical professionals as to organize appropriate management of these patients, because little is known regarding the risk and outcomes of such pregnancies. The aim of this report is to describe our centre’s first experience of pregnancy and delivery management in patient with an implantable cardioverter-defibrillator as primary prevention of ventricular arrhythmias in congenital long QT syndrome.

Age- and Genotype-Specific Triggers for Life-Threatening Arrhythmia in the Genotyped Long QT Syndrome

2008 ◽  
Vol 19 (8) ◽  
pp. 794-799 ◽  
Author(s):  
TOMOKO SAKAGUCHI ◽  
WATARU SHIMIZU ◽  
HIDEKI ITOH ◽  
TAKASHI NODA ◽  
YOSHIHIRO MIYAMOTO ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Life Threatening ◽  
Qt Syndrome
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