KCNQ1 V141M and Short QT Syndrome: are we dealing with a different entity?

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
G Garcia Ordonez ◽  
A.E Reyes-Quintero ◽  
A Garcia ◽  
S Nava ◽  
M.J Levinstein ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Ventricular Arrhythmias ◽  
Categorical Variables ◽  
Control Group ◽  
Short Qt Syndrome ◽  
Av Node ◽  
Fetal Bradycardia ◽  
Qt Syndrome ◽  
Almost All ◽  
Group 1

Abstract   Short QT Syndrome (SQTS) is a highly malignant inherited primary electrical disease that is associated with ventricular arrhythmias and sudden cardiac death (SCD); despite this, some patients may present a different arrhythmic phenotype with supraventricular affection. One particular presentation can be notably separated from others. The V141M variant from the KCNQ1 gene frequently presents with fetal bradycardia, atrial fibrillation, sinus, and AV node dysfunction, but without a single reported event of ventricular arrhythmia. To perform a literature review and pool analysis of SQTS cases, and compare patients with the V141M mutation in KCNQ1 to other SQTS cases to determine if we are dealing with a different electrical disorder. We conducted a search in the Varsome, Mastermind, MEDLINE, PubMed, and ClinVar databases to identify SQTS patients and conduct a pooled analysis. Their age, gender, clinical presentation, ECG findings, genetic analysis, and follow-up assessment were collected for analysis. If the duration of the QT interval was not described, it was determined by direct measurements in published ECG. For the comparison between groups, SQTS patients, we separated into two main groups: Non-KCNQ1 V141M patients (Group 1) and positive KCNQ1 V141M mutation (Group 2). Categorical variables are expressed as percentages. The categorical variables were analyzed using chi-square or Fisher exact test when necessary. We gathered 56 patients with a diagnosis of SQTS from 27 previous publications combined with one other case followed by the authors. A total of 13 (23.2%) patients presented with the V141M KCNQ1 mutation, the majority of KCNQ1 V141M patients were female (10 [77%]). Patients from group 1 had a significantly higher rate of familiar SCD (53.4% vs. 18.1%; P=0.04). Patients from the latter group have a significant history of SND when compared to the control group (36.3% vs. 0; P=0.001). The presence of SCD showed no significant difference between the two groups; nevertheless, the difference regarding ventricular arrhythmias is well represented (41.8% vs. 0; P=0.01). Both sinus and AV node dysfunction were present in almost all V141M patients when compared to the control group; a statistical significance was found (P = >0.001 for both instances). On the same regard, almost all patients from de V141M group presented SVA (84.6% vs 28.5%; P=0.001), specifically atrial fibrillation was present in all but 2 patients from the V141M group, which was significant (84.6% vs 24.3%; P = >0.001). Finally, fetal bradycardia was present in most of the members of this group, in contrast with the control group, with no patients with this characteristic (P = >0.001). SQTS is a phenotypically heterogeneous disease with many genetic subtypes; we propose a differentiation between the common known presentations of this syndrome and the more defined phenotype of the KCNQ1 V141M mutation. First Mexican patient with SQTS Funding Acknowledgement Type of funding source: None

scholarly journals De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero

2005 ◽  
Vol 68 (3) ◽  
pp. 433-440 ◽  
Author(s):  
K HONG ◽  
D PIPER ◽  
A DIAZVALDECANTOS ◽  
J BRUGADA ◽  
A OLIVA ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
De Novo ◽  
In Utero ◽  
Short Qt Syndrome ◽  
Qt Syndrome

scholarly journals 57PA-6 inhibits gain-of-function KIR2.1 channels associated with short QT syndrome type 3 and congenital atrial fibrillation

EP Europace ◽  
2017 ◽  
Vol 19 (suppl_3) ◽  
pp. iii2-iii2
Author(s):  
MAG Van Der Heyden ◽  
M. Veldhuis ◽  
J. Zandvoort ◽  
MJC Houtman ◽  
K. Duran ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Syndrome Type ◽  
Short Qt Syndrome ◽  
Gain Of Function ◽  
Qt Syndrome ◽  
Type 3

Identification of circumferential pulmonary vein isolation responders among patients with persistent atrial fibrillation: clinical value of the sequential low-dose ibutilide test

EP Europace ◽  
2020 ◽  
Vol 22 (8) ◽  
pp. 1197-1205
Author(s):  
Shu-Nan He ◽  
Ying Tian ◽  
Liang Shi ◽  
Yan-Jiang Wang ◽  
Bo-Qia Xie ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Pulmonary Vein ◽  
Pulmonary Vein Isolation ◽  
Low Dose ◽  
Persistent Atrial Fibrillation ◽  
Control Group ◽  
Clinical Value ◽  
Group 2 ◽  
Circumferential Pulmonary Vein Isolation ◽  
Group 1

Abstract Aims Circumferential pulmonary vein isolation can be effective as sole treatment for persistent atrial fibrillation. However, identifying those patients who will respond to this therapy remains a challenge. We investigated the clinical value of the sequential low-dose ibutilide test for identifying patients with persistent atrial fibrillation in whom pulmonary vein isolation is effective as sole therapy. Methods and results In a prospective cohort of 180 consecutive patients with persistent atrial fibrillation, intravenous low-dose (0.004 mg/kg) ibutilide was administered 3 days before ablation and after the completion of circumferential pulmonary vein isolation. In patients in whom ibutilide did not terminate atrial fibrillation pre-procedurally, but successfully terminated it intraprocedurally, no further atrial substrate modification was performed. Pre-procedural low-dose ibutilide failed to terminate the arrhythmia in all patients with persistent atrial fibrillation, while pulmonary vein isolation ± low-dose ibutilide terminated persistent atrial fibrillation in 55 (30.6%) of them (PsAF group 1). The remaining 125 (69.4%) patients underwent electrogram-based ablation (PsAF Group 2). The control group comprised 379 consecutive patients with paroxysmal atrial fibrillation who underwent pulmonary vein isolation over the same period. At 24 months follow-up, 39 (70.9%) patients in PsAF Group 1 and 276 (72.8%) patients in the control group were free from atrial tachyarrhythmias (P = NS); the arrhythmia-free rates in both groups were higher than that in PsAF group 2 (58.4%, P = 0.005). Conclusion The sequential low-dose ibutilide test is a simple method for identifying patients with persistent atrial fibrillation in whom pulmonary vein isolation alone is an appropriate treatment strategy.

scholarly journals Arterial hypertension in combination with atrial fibrillation and extracardiac diseases

2018 ◽  
Vol 99 (6) ◽  
pp. 894-899 ◽  
Author(s):  
L D Khidirova ◽  
D A Yakhontov ◽  
S A Zenin
Keyword(s):  
Atrial Fibrillation ◽  
Arterial Hypertension ◽  
Comparison Group ◽  
Density Lipoprotein ◽  
Control Group ◽  
Galectin 3 ◽  
Group 3 ◽  
The Difference ◽  
Group 5 ◽  
Group 1

Aim. To evaluate the character of the course and to determine the features of biochemical manifestations in patients with atrial fibrillation and arterial hypertension combined with extracardiac diseases. Methods. To study the features of the course of persisting form of atrial fibrillation (AF) in patients with arterial hypertension (AH) stage 3 combined with extracardiac diseases. 374 patients aged 45 to 65 years were examined. Among them chronic obstructive pulmonary disease (COPD; n = 37), diffuse toxic goiter (DTG; n = 33), hypothyroidism (HT; n = 69), diabetes mellitus (DM; n = 49) and abdominal obesity (AO; n = 64) of mild and moderate degree were detected. 5 groups were formed: group 1 - AH + AF + COPD, group 2 - AH + AF + HT, group 3 - AH + AF + DTG, group 4 - AH + AF + DM, group 5 - AH + AF + AO. The control group included 56 patients with AH and AF without concomitant diseases, and the comparison group included 36 patients with AF without AH and 30 patients with AH without AF. The study evaluated clinical, anthropometric and laboratory parameters, the results of instrumental diagnostic investigation. The level of galectin-3 was determined in the serum by ELISA. The concentration of brain natriuretic peptide (NT-proBNP) was measured with a panel “NT-proBNP - ELISA - Best”. Multiple comparisons of the groups were performed with Kruskal - Wallis test. To compare binary and categorical parameters, exact two-tail Fisher’s test was used. Optimal multivariate regression models were developed directly and reversely. Verification of statistical hypotheses was carried out with critical value of significance p = 0.05 i.e. the difference was considered statistically significant if p < 0.05. All statistical calculations were performed with the use of R-Studio soft. Results. When assessing the lipid profile in the studied groups, significant differences were detected for HDL (high density lipoprotein) the values of which were the highest in the control group; TC (total cholesterol) was significantly lower in group 1 and 2; LDL (low density lipoprotein) and TG (triglycerides) - in group 3. The level of uric acid in the serum in all clinical groups was higher compared to those of the control group but significance was reached only in group 3. The concentration of K+ in the blood was significantly higher in all groups compared to the control group. The study of NT-proBNP and galectin-3 as markers reflecting the processes of remodeling and myocardial fibrosis in patients with atrial fibrillation combined with arterial hypertension, demonstrated that the average level of NT-proBNP in all groups was higher than in the control group but the difference was significant only in group 5. The level of galectin-3 in the serum of patients with arterial hypertension and atrial fibrillation combined with comorbid extracardiac pathology was significantly higher in the groups compared to the control group (except for group 3 where the number of patients was the lowest) and significantly lower in the comparison group of patients with atrial fibrillation without arterial hypertension. Conclusion. The course of arterial hypertension and atrial fibrillation with concomitant extracardiac diseases is characterized by the changes of biochemistry, which manifest as the changes of lipid profile, electrolyte content and factors inducing fibrosis. The obtained data confirm the possible role of galectin-3 as a biological marker of fibrosis and myocardial remodeling in patients with AF and AH and comorbid extracardiac pathology.

Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—short QT syndrome

2018 ◽  
Author(s):  
Erol Tülümen ◽  
Martin Borggrefe
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Basis ◽  
Association Studies ◽  
Single Gene ◽  
Candidate Gene Approach ◽  
Genome Wide Association Studies ◽  
Loss Of Function ◽  
Short Qt Syndrome ◽  
Dispersion Of Repolarization ◽  
Qt Syndrome

Short QT syndrome (SQTS) is a very rare, sporadic or autosomal dominant inherited channelopathy characterized by abnormally short QT intervals on the electrocardiogram and increased propensity to atrial and ventricular tachyarrhythmias and/or sudden cardiac death. Since its recognition as a distinct clinical entity in 2000, significant progress has been made in defining the clinical, molecular, and genetic basis of SQTS. To date, several causative gain-of-function mutations in potassium channel genes and loss-of-function mutations in calcium channel genes have been identified. The physiological consequence of these mutations is an accelerated repolarization, thus abbreviated action potentials and shortened QT interval with an increased inhomogeneity and dispersion of repolarization. Regarding other rare monogenetic arrhythmias, a genetic basis of atrial fibrillation was considered very unlikely until very recently. However, in the last decade the heritability of atrial fibrillation in the general population has been well described in several epidemiological studies. So far, more than 30 genes have been implicated in atrial fibrillation through candidate gene approach studies, and 14 loci were found to be associated with atrial fibrillation through genome-wide association studies. This genetic heterogeneity and the low prevalence of mutations in any single gene restrict the clinical utility of genetic screening in atrial fibrillation.

Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—short QT syndrome

ESC CardioMed ◽  
2018 ◽  
pp. 676-679
Author(s):  
Erol Tülümen ◽  
Martin Borggrefe
Keyword(s):  
Atrial Fibrillation ◽  
Genetic Basis ◽  
Association Studies ◽  
Single Gene ◽  
Epidemiological Studies ◽  
Candidate Gene Approach ◽  
Loss Of Function ◽  
Short Qt Syndrome ◽  
Qt Intervals ◽  
Qt Syndrome

Short QT syndrome (SQTS) is a very rare, sporadic or autosomal dominant inherited channelopathy characterized by abnormally short QT intervals on the electrocardiogram and increased propensity to atrial and ventricular tachyarrhythmias and/or sudden cardiac death. Since its recognition as a distinct clinical entity in 2000, significant progress has been made in defining the clinical, molecular, and genetic basis of SQTS. To date, several causative gain-of-function mutations in potassium channel genes and loss-of-function mutations in calcium channel genes have been identified. The physiological consequence of these mutations is an accelerated repolarization, thus abbreviated action potentials and shortened QT interval with an increased inhomogeneity and dispersion of repolarization. Regarding other rare monogenetic arrhythmias, a genetic basis of atrial fibrillation was considered very unlikely until very recently. However, in the last decade the heritability of atrial fibrillation in the general population has been well described in several epidemiological studies. So far, more than 30 genes have been implicated in atrial fibrillation through candidate gene approach studies, and more than 25 loci were found to be associated with atrial fibrillation through genome-wide association studies. This genetic heterogeneity and the low prevalence of mutations in any single gene restrict the clinical utility of genetic screening in atrial fibrillation.

scholarly journals Short QT Syndrome – Review of Diagnosis and Treatment

2014 ◽  
Vol 3 (2) ◽  
pp. 76 ◽  
Author(s):  
Boris Rudic ◽  
Rainer Schimpf ◽  
Martin Borggrefe ◽  
◽  
◽  
...  
Keyword(s):  
Ventricular Arrhythmias ◽  
Genetic Basis ◽  
Current Data ◽  
Short Qt Syndrome ◽  
First Line Therapy ◽  
Cardiac Ion Channels ◽  
Increased Risk ◽  
History Of ◽  
Qt Syndrome ◽  
Electrocardiogram Ecg

Short QT syndrome (SQTS) is an inherited cardiac channelopathy characterised by an abnormally short QT interval and increased risk for atrial and ventricular arrhythmias. Diagnosis is based on the evaluation of symptoms (syncope or cardiac arrest), family history and electrocardiogram (ECG) findings. Mutations of cardiac ion channels responsible for the repolarisation orchestrate electrical heterogeneity during the action potential and provide substrate for triggering and maintaining of tachyarrhythmias. Due to the malignant natural history of SQTS, implantable cardioverter defibrillator (ICD) is the first-line therapy in affected patients. This review summarises current data and addresses the genetic basis and clinical features of SQTS.

Short QT Syndrome and Atrial Fibrillation Caused by Mutation in KCNH2

2005 ◽  
Vol 16 (4) ◽  
pp. 394-396 ◽  
Author(s):  
KUI HONG ◽  
PREBEN BJERREGAARD ◽  
IHOR GUSSAK ◽  
RAMON BRUGADA
Keyword(s):  
Atrial Fibrillation ◽  
Short Qt Syndrome ◽  
Qt Syndrome

scholarly journals KCNJ2mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia

2013 ◽  
Vol 110 (11) ◽  
pp. 4291-4296 ◽  
Author(s):  
Makarand Deo ◽  
Yanfei Ruan ◽  
Sandeep V. Pandit ◽  
Kushal Shah ◽  
Omer Berenfeld ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Short Qt Syndrome ◽  
Qt Syndrome

scholarly journals Indicators of the reproductive function after endoscopic surgical treatment of uterine myomas

2020 ◽  
Vol 13 (4) ◽  
pp. 297-304
Author(s):  
M. M. Vysotskiy ◽  
I. I. Kuranov ◽  
O. B. Nevzorov
Keyword(s):  
Reproductive Function ◽  
Reproductive Age ◽  
Control Group ◽  
Women Of Reproductive Age ◽  
Hormone Production ◽  
Degree Of Malignancy ◽  
Main Factors ◽  
Group 2 ◽  
Almost All ◽  
Group 1

Aim: to characterize the function of the reproductive system in women after organ-preserving surgery for uterine myoma: hysteroresectoscopic (HRS) myomectomy and laparoscopic (LS) myomectomy.Materials and methods. Forty one patients were examined and divided into 2 groups: Group 1 – 18 patients after HRS myomectomy and Group 2 – 23 patients after LS myomectomy. The control group included 20 healthy women of reproductive age.Results. The HRS operation led to a significant decrease in the production of anti-Mullerian hormone (AMH), estradiol and progesterone, while the levels of luteinizing (LH) and follicle-stimulating (FSH) hormones increased. After myomectomy performed by the laparoscopic access, the levels of estradiol, progesterone, and AMH decreased but the levels of both LH and FSH increased so that the ratio LH/FSH remained unchanged. Almost all indices of gonadotropic and steroid hormone production became normalized over 6 months of the postoperative period.Conclusion. The main factors of unfavorable prognosis in patients with ovarian tecoma are tumor necrosis, degree of malignancy and mitotic activity.

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