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Syndrom Brugada

C Hamoir, H Dano, M Komuta, P Druez, S Negrin Dastis
We report a cholestatic hepatitis in an elderly woman after ajmaline challenge during electrophysiological testing for Brugada syndrome. No other medication was reported in the previous 6 months of the onset of jaundice. Liver biopsy showed a cholestatic hepatitis with mild biliary damage. Liver enzymes normalized within 2 weeks as well as jaundice. To the best of our knowledge this is the second case of histologically proved cholestatic hepatitis induced by intravenous ajmaline testing.
July 2017: Acta Gastro-enterologica Belgica
Michael Papadakis, Efstathios Papatheodorou, Greg Mellor, Hariharan Raju, Rachel Bastiaenen, Yanushi Wijeyeratne, Sara Wasim, Bode Ensam, Gherardo Finocchiaro, Belinda Gray, Aneil Malhotra, Andrew D'Silva, Nina Edwards, Della Cole, Virginia Attard, Velislav N Batchvarov, Maria Tome-Esteban, Tessa Homfray, Mary N Sheppard, Sanjay Sharma, Elijah R Behr
BACKGROUND: Familial evaluation after a sudden death with negative autopsy (sudden arrhythmic death syndrome; SADS) may identify relatives at risk of fatal arrhythmias. OBJECTIVES: This study aimed to assess the impact of systematic ajmaline provocation testing using high right precordial leads (RPLs) on the diagnostic yield of Brugada syndrome (BrS) in a large cohort of SADS families. METHODS: Three hundred three SADS families (911 relatives) underwent evaluation with resting electrocardiogram using conventional and high RPLs, echocardiography, exercise, and 24-h electrocardiogram monitor...
March 20, 2018: Journal of the American College of Cardiology
Bernd R Gardill, Ricardo E Rivera-Acevedo, Ching-Chieh Tung, Mark Okon, Lawrence P McIntosh, Filip Van Petegem
Voltage-gated sodium channels (NaV ) are responsible for the rapid depolarization of many excitable cells. They readily inactivate, a process where currents diminish after milliseconds of channel opening. They are also targets for a multitude of disease-causing mutations, many of which have been shown to affect inactivation. A cluster of disease mutations, linked to Long-QT and Brugada syndromes, is located in a C-terminal EF-hand like domain of NaV 1.5, the predominant cardiac sodium channel isoform. Previous studies have suggested interactions with the III-IV linker, a cytosolic element directly involved in inactivation...
March 14, 2018: Scientific Reports
Sami Viskin
Terror-Mori-Ex-Abrupto is the Latin term for "fear of dropping dead." Based on frequent email consultations I receive from patients with "suspected Brugada syndrome" (BrS), it seems that a terrifying anticipation of dying is more dominant among asymptomatic patients with BrS than in other arrhythmogenic diseases. The tragic death of a young British man that went viral over Facebook, led >10,000 British citizens to petition their Parliament, requesting that all patients with asymptomatic BrS be given the choice of an implantable defibrillator (ICD) even in the absence of markers indicating increased risk Already, 1 in 2 patients undergoing ICD implantation for BrS are asymptomatic and 1 in 5 are not only free of symptoms, but do not even have the Brugada electrocardiogram (ECG) spontaneously...
March 12, 2018: Circulation
Diana João Fonseca, Manuel Joaquim Vaz da Silva
INTRODUCTION AND OBJECTIVES: The importance of sodium channels for the normal electrical activity of the heart is emphasized by the fact that mutations (inherited or de novo) in genes that encode for these channels or their associated proteins cause arrhythmogenic syndromes such as the Brugada syndrome and the long QT syndrome (LQTS). The aim of this study is to conduct a review of the literature on the mutations in the sodium channel complex responsible for heart disease and the implications of a close relationship between genetics and the clinical aspects of the main cardiac channelopathies, namely at the level of diagnosis, risk stratification, prognosis, screening of family members and treatment...
March 7, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
C Hamoir, H Dano, M Komuta, P Druez, S N Dastis
We report a cholestatic hepatitis in an elderly woman after ajmaline challenge during electrophysiological testing for Brugada syndrome. No other medication was reported in the previous 6 months of the onset of jaundice. Liver biopsy showed a cholestatic hepatitis with mild biliary damage. Liver enzymes normalized within 2 weeks as well as jaundice. To the best of our knowledge this is the second case of histologically proved cholestatic hepatitis induced by intravenous ajmaline testing.
July 2017: Acta Gastro-enterologica Belgica
Mouna Ben Kilani, Soufia Naccache, Rami Tlili, Dorra Mbarek, Salma Longo, Youssef Ben Ameur, Mohamed Rachid Boujnah
Class Ic antiarrythmic overdose is associated with a relatively high mortality. We presenta case report regarding a suicidal intoxication of an 18-year old female with a medical history of Wolff-Parkinson-White syndrome. The preliminary examination highlighted a profound cardiovascular collapse. The electrocardiogram showed a PR interval extended to 360 ms. The QRS complexes were enlarged to 360 ms with a right bundle brunch block appearance associated with left posterior hemibloc. There were repolarization abnormalities such as elevation of the J-point, convex ST segment and biphasic T wave in the right precordial leads ("Brugada-Like ECG pattern")...
June 2017: La Tunisie Médicale
Jesus Mates, Irene Mademont-Soler, Bernat Del Olmo, Carles Ferrer-Costa, Monica Coll, Alexandra Pérez-Serra, Ferran Picó, Catarina Allegue, Anna Fernandez-Falgueras, Patricia Álvarez, Raquel Yotti, Maria Angeles Espinosa, Georgia Sarquella-Brugada, Sergi Cesar, Ester Carro, Josep Brugada, Elena Arbelo, Pablo Garcia-Pavia, Mar Borregan, Eduardo Tizzano, Amador López-Granados, Francisco Mazuelos, Aranzazu Díaz de Bustamante, Maria Teresa Darnaude, José Ignacio González-Hevia, Felícitas Díaz-Flores, Francisco Trujillo, Anna Iglesias, Francisco Fernandez-Aviles, Oscar Campuzano, Ramon Brugada
Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few exhaustive analyses in large cohorts of patients have been performed, and they have been generally focused on a specific SCD-related disease. The aim of the present study was to screen for CNVs the most prevalent genes associated with SCD in a large cohort of patients who suffered sudden unexplained death or had an inherited cardiac disease (cardiomyopathy or channelopathy)...
March 6, 2018: European Journal of Human Genetics: EJHG
Prabhpreet Singh, Amit Noheria
Invasive electrophysiology (EP) mapping and catheter ablation has increasingly become the standard of care for many cardiac arrhythmias like supraventricular tachycardias, atrial fibrillation, premature ventricular complexes (PVC), and monomorphic ventricular tachycardia. In this review, we discuss the recent progress made in the mapping and ablation of ventricular fibrillation (VF). Ventricular activation during VF is apparently disorganized, making mapping and interpretation difficult. Prolonged mapping during VF would require mechanical circulatory support as VF causes complete hemodynamic collapse...
March 6, 2018: Current Treatment Options in Cardiovascular Medicine
C M Mak, S Pl Chen, N S Mok, W K Siu, H Hc Lee, C K Ching, P T Tsui, N C Fong, Y P Yuen, W T Poon, C Y Law, Y K Chong, Y W Chan, T C Yung, K Yy Fan, C W Lam
INTRODUCTION: Hereditary channelopathies and cardiomyopathies are potentially lethal and are clinically and genetically heterogeneous, involving at least 90 genes. Genetic testing can provide an accurate diagnosis, guide treatment, and enable cascade screening. The genetic basis among the Hong Kong Chinese population is largely unknown. We aimed to report on 28 unrelated patients with positive genetic findings detected from January 2006 to December 2015. METHODS: Sanger sequencing was performed for 28 unrelated patients with a clinical diagnosis of channelopathies or cardiomyopathies, testing for the following genes: KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A, for long QT syndrome; SCN5A for Brugada syndrome; RYR2 for catecholaminergic polymorphic ventricular tachycardia; MYH7 and MYBPC3 for hypertrophic cardiomyopathy; LMNA for dilated cardiomyopathy; and PKP2 and DSP for arrhythmogenic right ventricular dysplasia/cardiomyopathy...
March 2, 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
Kathleen T Hickey, Amir Elzomor
The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death. Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families...
2018: AACN Advanced Critical Care
Anna Garcia-Elias, Begoña Benito
Long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are inherited primary electrical disorders that predispose to sudden cardiac death in the absence of structural heart disease. Also known as cardiac channelopathies, primary electrical disorders respond to mutations in genes encoding cardiac ion channels and/or their regulatory proteins, which result in modifications in the cardiac action potential or in the intracellular calcium handling that lead to electrical instability and life-threatening ventricular arrhythmias...
February 28, 2018: International Journal of Molecular Sciences
Gregory Dendramis, Adrian Baranchuk, Pedro Brugada
No abstract text is available yet for this article.
February 2018: Indian Journal of Anaesthesia
Lu Yang, Guodong Ma, Tianyu Yu, Huikuan Gao, Yongliang Wang, Yongquan Wu
RATIONALE: Vasospastic angina is caused by sudden occlusive vasoconstriction of a segment of an epicardial artery, with transient ST-segment elevation on electrocardiography. Brugada Syndrome is an inherited arrhythmogenic cardiac disorder with a diagnostic electrocardiography characterized by coved-type ST-segment elevation in right precordial leads (V1-V3). Those two diseases usually have no correlation. In this report, we discuss an interesting case of a patient who was diagnosed as vasospastic angina according to his coronary angiography, but his electrocardiography showed a Brugada-like ST-segment elevation...
March 2018: Medicine (Baltimore)
Mena Abdelsayed, Manpreet Ruprai, Peter C Ruben
E1784K is the most common mixed syndrome SCN5a mutation underpinning both Brugada syndrome type 1 (BrS1) and Long-QT syndrome type 3 (LQT3). The charge reversal mutant enhances the late sodium current (INa ) passed by the cardiac voltage-gated sodium channel (NaV 1.5), delaying cardiac repolarization. Exercise-induced triggers, like elevated temperature and cytosolic calcium, exacerbate E1784K late INa . In this study, we tested the effects of Ranolazine, the late INa blocker, on voltage-dependent and kinetic properties of E1784K at elevated temperature and cytosolic calcium...
February 26, 2018: Scientific Reports
K P Letsas, S Xydonas, N Karamichalakis, M Efremidis, D Manolatos, G Bazoukis, D Asvestas, K Vlachos, S Georgopoulos, A Saplaouras, J Winter, A Sideris
BACKGROUND: The conventional technique for subcutaneous implantable cardioverter-defibrillator (S-ICD) implantation has been associated with pocket complications. The aim of this study was to evaluate the efficacy and safety of an alternative intermuscular technique for S‑ICD implantation. METHODS: S-ICDs were implanted in ten consecutive patients (ten males, mean age: 46.8 ± 14.7 years). The pocket for the pulse generator was made above the serratus anterior muscular fascia and beneath the latissimus dorsi muscle by detaching the fibrous tissue between the muscles...
February 21, 2018: Herz
Jussi T Koivumäki, Nikolay Naumenko, Tomi Tuomainen, Jouni Takalo, Minna Oksanen, Katja A Puttonen, Šárka Lehtonen, Johanna Kuusisto, Markku Laakso, Jari Koistinaho, Pasi Tavi
Background: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) have emerged as a promising experimental tool for translational heart research and drug development. However, their usability as a human adult cardiomyocyte model is limited by their functional immaturity. Our aim is to analyse quantitatively those characteristics and how they differ from adult CMs. Methods and Results: We have developed a novel in silico model with all essential functional electrophysiology and calcium handling features of hiPSC-CMs...
2018: Frontiers in Physiology
Christie Sun, Jessica A Brice, Richard F Clark
BACKGROUND: Loperamide has been increasing in popularity recently for its effects separate from treatment of diarrhea. In large doses or in combination with other agents, it can lead to desirable effects in the central nervous system. However, cardiotoxicity has been reported with its abuse. CASE REPORT: A 49-year-old male who had been chronically abusing loperamide was found to have Brugada-like changes on his electrocardiogram (ECG). He had no other clinical symptoms associated with Brugada syndrome and did not have similar findings on previous ECGs...
February 10, 2018: Journal of Emergency Medicine
Shu-Hong Huang, Yu-Shin Chang, Jyh-Ming Jimmy Juang, Kai-Wei Chang, Mong-Hsun Tsai, Tzu-Pin Lu, Liang-Chuan Lai, Eric Y Chuang, Nien-Tsu Huang
In this study, we developed an automated microfluidic DNA microarray (AMDM) platform for point mutation detection of genetic variants in inherited arrhythmic diseases. The platform allows for automated and programmable reagent sequencing under precise conditions of hybridization flow and temperature control. It is composed of a commercial microfluidic control system, a microfluidic microarray device, and a temperature control unit. The automated and rapid hybridization process can be performed in the AMDM platform using Cy3 labeled oligonucleotide exons of SCN5A genetic DNA, which produces proteins associated with sodium channels abundant in the heart (cardiac) muscle cells...
February 9, 2018: Analyst
Hao Huang, Dong-Bo Ding, Liang-Liang Fan, Jie-Yuan Jin, Jing-Jing Li, Shuai Guo, Ya-Qin Chen, Rong Xiang
BACKGROUND: SCN5A encodes sodium-channel α-subunit Nav1.5. The mutations of SCN5A can lead to hereditary cardiac arrhythmias such as the long-QT syndrome type 3 and Brugada syndrome. Here we sought to identify novel mutations in a family with arrhythmia. METHODS: Genomic DNA was isolated from blood of the proband, who was diagnosed with atrial flutter. Illumina Hiseq 2000 whole-exome sequencing was performed and an arrhythmia-related gene-filtering strategy was used to analyse the pathogenic genes...
February 6, 2018: Cardiology in the Young
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