Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance
ConclusionOur study highlights the importance of collation and review of pre-ACMG genetic variants to increase diagnostic utility of genetic testing for inherited heart disease. Almost half of patients with pre-ACMG VUS reviewed had their variant re-classified to likely pathogenic/likely benign which resulted in a positive clinical impact for patients and their families. (Source: Irish Journal of Medical Science)
Source: Irish Journal of Medical Science - March 15, 2024 Category: General Medicine Source Type: research

Development and validation of a clinical risk score for all-cause mortality in patients with acquired long QT syndrome
Eur J Intern Med. 2024 Mar 11:S0953-6205(24)00053-0. doi: 10.1016/j.ejim.2024.02.003. Online ahead of print.NO ABSTRACTPMID:38472044 | DOI:10.1016/j.ejim.2024.02.003 (Source: European Journal of Internal Medicine)
Source: European Journal of Internal Medicine - March 12, 2024 Category: Internal Medicine Authors: Xiaopeng Dong Shihao Wang Cheng Chen Xiaolei Yang Yunlong Xia Source Type: research

Development and validation of a clinical risk score for all-cause mortality in patients with acquired long QT syndrome
Eur J Intern Med. 2024 Mar 11:S0953-6205(24)00053-0. doi: 10.1016/j.ejim.2024.02.003. Online ahead of print.NO ABSTRACTPMID:38472044 | DOI:10.1016/j.ejim.2024.02.003 (Source: European Journal of Internal Medicine)
Source: European Journal of Internal Medicine - March 12, 2024 Category: Internal Medicine Authors: Xiaopeng Dong Shihao Wang Cheng Chen Xiaolei Yang Yunlong Xia Source Type: research

Biophysical mechanisms of myocardium sodium channelopathies
Pflugers Arch. 2024 Mar 1. doi: 10.1007/s00424-024-02930-3. Online ahead of print.ABSTRACTGenetic variants of gene SCN5A encoding the alpha-subunit of cardiac voltage-gated sodium channel Nav1.5 are associated with various diseases, including long QT syndrome (LQT3), Brugada syndrome (BrS1), and progressive cardiac conduction disease (PCCD). In the last decades, the great progress in understanding molecular and biophysical mechanisms of these diseases has been achieved. The LQT3 syndrome is associated with gain-of-function of sodium channels Nav1.5 due to impaired inactivation, enhanced activation, accelerated recovery fro...
Source: Pflugers Archiv : European Journal of Physiology - February 29, 2024 Category: Physiology Authors: Anastasia K Zaytseva Olga E Kulichik Anna A Kostareva Boris S Zhorov Source Type: research

Biophysical mechanisms of myocardium sodium channelopathies
Pflugers Arch. 2024 Mar 1. doi: 10.1007/s00424-024-02930-3. Online ahead of print.ABSTRACTGenetic variants of gene SCN5A encoding the alpha-subunit of cardiac voltage-gated sodium channel Nav1.5 are associated with various diseases, including long QT syndrome (LQT3), Brugada syndrome (BrS1), and progressive cardiac conduction disease (PCCD). In the last decades, the great progress in understanding molecular and biophysical mechanisms of these diseases has been achieved. The LQT3 syndrome is associated with gain-of-function of sodium channels Nav1.5 due to impaired inactivation, enhanced activation, accelerated recovery fro...
Source: Pflugers Archiv : European Journal of Physiology - February 29, 2024 Category: Physiology Authors: Anastasia K Zaytseva Olga E Kulichik Anna A Kostareva Boris S Zhorov Source Type: research

Biophysical mechanisms of myocardium sodium channelopathies
Pflugers Arch. 2024 Mar 1. doi: 10.1007/s00424-024-02930-3. Online ahead of print.ABSTRACTGenetic variants of gene SCN5A encoding the alpha-subunit of cardiac voltage-gated sodium channel Nav1.5 are associated with various diseases, including long QT syndrome (LQT3), Brugada syndrome (BrS1), and progressive cardiac conduction disease (PCCD). In the last decades, the great progress in understanding molecular and biophysical mechanisms of these diseases has been achieved. The LQT3 syndrome is associated with gain-of-function of sodium channels Nav1.5 due to impaired inactivation, enhanced activation, accelerated recovery fro...
Source: Pflugers Archiv : European Journal of Physiology - February 29, 2024 Category: Physiology Authors: Anastasia K Zaytseva Olga E Kulichik Anna A Kostareva Boris S Zhorov Source Type: research

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy
Z Geburtshilfe Neonatol. 2024 Feb 22. doi: 10.1055/a-2231-9348. Online ahead of print.ABSTRACTCongenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth ...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - February 22, 2024 Category: Perinatology & Neonatology Authors: Linda Sarah Wegner Johannes Steinhard Thomas Frank Kai Thorsten Laser Karol Kubiak Source Type: research

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy
Z Geburtshilfe Neonatol. 2024 Feb 22. doi: 10.1055/a-2231-9348. Online ahead of print.ABSTRACTCongenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth ...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - February 22, 2024 Category: Perinatology & Neonatology Authors: Linda Sarah Wegner Johannes Steinhard Thomas Frank Kai Thorsten Laser Karol Kubiak Source Type: research

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy
Z Geburtshilfe Neonatol. 2024 Feb 22. doi: 10.1055/a-2231-9348. Online ahead of print.ABSTRACTCongenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth ...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - February 22, 2024 Category: Perinatology & Neonatology Authors: Linda Sarah Wegner Johannes Steinhard Thomas Frank Kai Thorsten Laser Karol Kubiak Source Type: research

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy
Z Geburtshilfe Neonatol. 2024 Feb 22. doi: 10.1055/a-2231-9348. Online ahead of print.ABSTRACTCongenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth ...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - February 22, 2024 Category: Perinatology & Neonatology Authors: Linda Sarah Wegner Johannes Steinhard Thomas Frank Kai Thorsten Laser Karol Kubiak Source Type: research

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy
Z Geburtshilfe Neonatol. 2024 Feb 22. doi: 10.1055/a-2231-9348. Online ahead of print.ABSTRACTCongenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth ...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - February 22, 2024 Category: Perinatology & Neonatology Authors: Linda Sarah Wegner Johannes Steinhard Thomas Frank Kai Thorsten Laser Karol Kubiak Source Type: research

Fetal Long QT Syndrome - Challenges in Perinatal Management: A Review and Case Report. Induction of Labor and Vaginal Birth Under Continuous Magnesium Therapy
Z Geburtshilfe Neonatol. 2024 Feb 22. doi: 10.1055/a-2231-9348. Online ahead of print.ABSTRACTCongenital LQTS is an often undetected inherited cardiac channel dysfunction and can be a reason for intrauterine fetal demise. It can present in utero as CTG and ultrasound abnormalities, i. e., bradycardia, ventricular tachycardia, or fetal hydrops. Diagnosis is made by CTG, echocardiography, or fMCG. Intrauterine therapy with a ß blocker and i. v. magnesium should be started. Our objective was to examine the current knowledge about diagnosis and treatment of LQTS and in particular to highlight the opportunity of vaginal birth ...
Source: Zeitschrift fur Geburtshilfe und Neonatologie - February 22, 2024 Category: Perinatology & Neonatology Authors: Linda Sarah Wegner Johannes Steinhard Thomas Frank Kai Thorsten Laser Karol Kubiak Source Type: research

Sensors, Vol. 24, Pages 1318: Wearable Technology for Monitoring Electrocardiograms (ECGs) in Adults: A Scoping Review
Anand In the rapidly evolving landscape of continuous electrocardiogram (ECG) monitoring systems, there is a heightened demand for non-invasive sensors capable of measuring ECGs and detecting heart rate variability (HRV) in diverse populations, ranging from cardiovascular patients to sports enthusiasts. Challenges like device accuracy, patient privacy, signal noise, and long-term safety impede the use of wearable devices in clinical practice. This scoping review aims to assess the performance and safety of novel multi-channel, sensor-based biopotential wearable devices in adults. A comprehensive search strategy was ...
Source: Sensors - February 18, 2024 Category: Biotechnology Authors: Dahiya Kalra Lowe Anand Tags: Review Source Type: research

Relevance of mexiletine in the era of evolving antiarrhythmic therapy of ventricular arrhythmias
AbstractDespite impressive developments in the field of ventricular arrhythmias, there is still a relevant number of patients with ventricular arrhythmias who require antiarrhythmic drug therapy and may, e.g., in otherwise drug and/or ablation refractory situations, benefit from agents known for decades, such as mexiletine. Through its capability of blocking fast sodium channels in cardiomyocytes, it has played a minor to moderate antiarrhythmic role throughout the recent decades. Nevertheless, certain patients with structural heart disease suffering from drug-refractory, i.e., mainly amiodarone refractory ventricular arrh...
Source: Clinical Research in Cardiology - February 14, 2024 Category: Cardiology Source Type: research

Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants
Variants in the KCNQ1 gene, encoding the α-subunit of the slow component of delayed rectifier K+ channel, Kv7.1, cause long-QT syndrome type 1 (LQT1). The location of variants may be one of factors in determining prognosis. However, detailed genotype-phenotype relationships associated with C-terminus variants remain unelucidated. (Source: Heart Rhythm)
Source: Heart Rhythm - February 14, 2024 Category: Cardiology Authors: Asami Kashiwa, Hideki Itoh, Takeru Makiyama, Yuko Wada, Junichi Ozawa, Koichi Kato, Megumi Fukuyama, Tadashi Nakajima, Seiko Ohno, Minoru Horie Source Type: research