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Inherited Arrhythmias

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https://www.readbyqxmd.com/read/28990948/case-series-of-three-different-scenarios-with-drug-induced-brugada-patterns-fact-or-fiction
#1
Serkan Asil, Uğur Canpolat, Ergün Barış Kaya, Kudret Aytemir, Giray Kabakçı
Brugada syndrome is an inherited cardiac arrhythmia condition characterized by coved-type ST elevation and J point elevation of at least 2 mm in at least 2 of the right precordial electrocardiogram (ECG) leads (V1-3). An increasing number of noncardiac agents, including psychotropic and anesthetic drugs, have been shown to induce a characteristic Brugada ECG pattern, predisposing the patient to fatal ventricular arrhythmias. However, there are scarce data regarding the clinical significance. In this case series, a typical Brugada pattern was unmasked by lithium, valproic acid, and thiocolchicoside; however, the clinical scenario was different in all 3 cases, ranging from an asymptomatic patient to sudden cardiac arrest...
October 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28987496/low-symptomatic-skeletal-muscle-disease-in-patients-with-a-cardiac-disease-diagnostic-approach-in-skeletal-muscle-laminopathies
#2
Agnieszka Madej-Pilarczyk, Michał Marchel, Karolina Ochman, Joanna Cegielska, Roman Steckiewicz
Mild skeletal muscle symptoms might be accompanied with severe cardiac disease, sometimes indicating a serious inherited disorder. Very often it is a cardiologist who refers a patient with cardiomyopathy and/or cardiac arrhythmia and discrete muscle disease for neurological consultation, which helps to establish a proper diagnosis. Here we present three families in which a diagnosis of skeletal muscle laminopathy was made after careful examination of the members, who presented with cardiac arrhythmia and/or heart failure and a mild skeletal muscle disease, which together with positive family history allowed to direct the molecular diagnostics and then provide appropriate treatment and counseling...
September 25, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28984650/diagnosis-and-clinical-management-of-long-qt-syndrome
#3
Christian Steinberg
PURPOSE OF REVIEW: To give an overview over the substantial advances in the diagnosis and management of Long-QT syndrome since its first description 60 years ago. RECENT FINDINGS: LQT syndrome remains the most common inherited arrhythmia and is a leading cause for sudden unexplained death accounting for up to 20-25% of cases. Rapid progress of genetic technology over the past 2 decades has significantly improved our understanding of molecular and genetic mechanisms of LQT...
October 4, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28979908/epicardial-ablation-of-ventricular-tachycardia-in-a-patient-with-arrhythmogenic-right-ventricular-dysplasia-after-failed-conventional-endocardial-ablation-a-case-for-remote-navigation-with-functional-image-integration
#4
Sabine Ernst, Karine Roy, Eric Lim, Glyn Thomas
Arrhythmogenic right ventricular dysplasia (ARVD) is an inheritable heart muscle disease that predominantly affects the right ventricle (RV) and predisposes to ventricular arrhythmias and sudden cardiac death (SCD)(1). The natural history is predominantly related to ventricular electric instability which may lead to arrhythmic SCD, mostly in young people and athletes(2,3), but may progress with significant RV muscle disease and left-ventricular (LV) involvement and can result in right or biventricular heart failure(4)...
December 30, 2016: Global Cardiology Science & Practice
https://www.readbyqxmd.com/read/28961276/cpvt-associated-cardiac-ryanodine-receptor-mutation-g357s-with-reduced-penetrance-impairs-ca2-release-termination-and-diminishes-protein-expression
#5
Yingjie Liu, Jinhong Wei, Siobhan M Wong King Yuen, Bo Sun, Yijun Tang, Ruiwu Wang, Filip Van Petegem, S R Wayne Chen
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most lethal inherited cardiac arrhythmias mostly linked to cardiac ryanodine receptor (RyR2) mutations with high disease penetrance. Interestingly, a novel RyR2 mutation G357S discovered in a large family of more than 1400 individuals has reduced penetrance. The molecular basis for the incomplete disease penetrance in this family is unknown. To gain insights into the variable disease expression in this family, we determined the impact of the G357S mutation on RyR2 function and expression...
2017: PloS One
https://www.readbyqxmd.com/read/28957535/exercise-and-the-right-ventricle-a-potential-achilles-heel
#6
Andre La Gerche, Dhrubo J Rakhit, Guido Claessen
Exercise is associated with unequivocal health benefits and results in many structural and functional changes of the myocardium that enhance performance and prevent heart failure. However, intense exercise also presents a significant hemodynamic challenge in which the right-sided heart chambers are exposed to a disproportionate increase in afterload and wall stress that can manifest as myocardial fatigue or even damage if intense exercise is sustained for prolonged periods. This review focuses on the physiological factors that result in a disproportionate load on the right ventricle during exercise and the long-term consequences...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28956012/flecainide-ameliorates-arrhythmogenicity-through-ncx-flux-in-andersen-tawil-syndrome-ips-cell-derived-cardiomyocytes
#7
Yusuke Kuroda, Shinsuke Yuasa, Yasuhide Watanabe, Shogo Ito, Toru Egashira, Tomohisa Seki, Tetsuhisa Hattori, Seiko Ohno, Masaki Kodaira, Tomoyuki Suzuki, Hisayuki Hashimoto, Shinichiro Okata, Atsushi Tanaka, Yoshiyasu Aizawa, Mitsushige Murata, Takeshi Aiba, Naomasa Makita, Tetsushi Furukawa, Wataru Shimizu, Itsuo Kodama, Satoshi Ogawa, Norito Kokubun, Hitoshi Horigome, Minoru Horie, Kaichiro Kamiya, Keiichi Fukuda
Andersen-Tawil syndrome (ATS) is a rare inherited channelopathy. The cardiac phenotype in ATS is typified by a prominent U wave and ventricular arrhythmia. An effective treatment for this disease remains to be established. We reprogrammed somatic cells from three ATS patients to generate induced pluripotent stem cells (iPSCs). Multi-electrode arrays (MEAs) were used to record extracellular electrograms of iPSC-derived cardiomyocytes, revealing strong arrhythmic events in the ATS-iPSC-derived cardiomyocytes...
March 2017: Biochemistry and Biophysics Reports
https://www.readbyqxmd.com/read/28951021/impact-of-supraventricular-tachyarrhythmia-in-patients-with-inherited-cardiac-arrhythmia
#8
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Agnes J Q M Muskens, Natasja M S de Groot
Supraventricular tachyarrhythmia (SVT), especially atrial fibrillation (AF), has been observed in patients with inherited cardiac arrhythmia (ICA). Data on the time course of SVT and the occurrence of SVT other than AF is limited. In this study, we examined the prevalence, co-existence, and the time course of different types of SVT in patients with various ICAs. In this retrospective study, we selected 393 patients (median 49 years, range 17 to 87, 57% male) from a cohort of patients visiting the outpatient clinic for cardiogenetic screening of ICA...
August 30, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28948000/wnt-%C3%AE-catenin-pathway-in-arrhythmogenic-cardiomyopathy
#9
REVIEW
Alessandra Lorenzon, Martina Calore, Giulia Poloni, Leon J De Windt, Paola Braghetta, Alessandra Rampazzo
Wnt/β-catenin signaling pathway plays essential roles in heart development as well as cardiac tissue homoeostasis in adults. Abnormal regulation of this signaling pathway is linked to a variety of cardiac disease conditions, including hypertrophy, fibrosis, arrhythmias, and infarction. Recent studies on genetically modified cellular and animal models document a crucial role of Wnt/β-catenin signaling in the molecular pathogenesis of arrhythmogenic cardiomyopathy (AC), an inherited disease of intercalated discs, typically characterized by ventricular arrhythmias and progressive substitution of the myocardium with fibrofatty tissue...
September 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28928611/brugada-syndrome-in-children-stepping-into-unchartered-territory
#10
REVIEW
Shashank P Behere, Steven N Weindling
Brugada syndrome (BrS) is an autosomal dominant inherited channelopathy. It is associated with a typical pattern of ST-segment elevation in the precordial leads V1-V3 and potentially lethal ventricular arrhythmias in otherwise healthy patients. It is frequently seen in young Asian males, in whom it has previously been described as sudden unexplained nocturnal death syndrome. Although it typically presents in young adults, it is also known to present in children and infants, especially in the presence of fever...
September 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28912206/clinical-yield-of-familial-screening-after-sudden-death-in-young-subjects-the-french-experience
#11
MULTICENTER STUDY
Pauline Quenin, Florence Kyndt, Philippe Mabo, Jacques Mansourati, Dominique Babuty, Aurélie Thollet, Béatrice Guyomarch, Richard Redon, Julien Barc, Jean-Jacques Schott, Frederic Sacher, Vincent Probst, Jean Baptiste Gourraud
BACKGROUND: After sudden cardiac death with negative autopsy, clinical screening of relatives identifies a high proportion of inherited arrhythmia syndrome. However, the efficacy of this screening in families not selected by autopsy has never been assessed. We aim to investigate the value of clinical screening in relatives of all subjects who died suddenly before 45 years of age. METHODS AND RESULTS: One hundred and three consecutive families who experienced unexplained sudden cardiac death before 45 years of age were included from May 2009 to December 2014 in a prospective multicenter registry...
September 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28912183/arrhythmogenic-cardiomyopathy
#12
REVIEW
Domenico Corrado, Cristina Basso, Daniel P Judge
Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden cardiac death, particularly in young patients and athletes. Pathological features include loss of myocytes and fibrofatty replacement of right ventricular myocardium; biventricular involvement is often observed. It is a cell-to-cell junction cardiomyopathy, typically caused by genetically determined abnormalities of cardiac desmosomes, which leads to detachment of myocytes and alteration of intracellular signal transduction...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28888063/sumo-co-expression-modifies-kv-11-1-channel-activity
#13
Annette Buur Steffensen, Martin Nybo Andersen, Nancy Mutsaers, Amer Mujezinovic, Nicole Schmitt
AIM: The voltage-gated potassium channel KV 11.1 is the molecular basis for the IKr current which plays an important role in cardiac physiology. Its malfunction is associated with both inherited and acquired cardiac arrhythmias. Native currents differ from those in experimental models, suggesting additional regulatory mechanisms. We hypothesised that the post-translational modification sumoylation finetunes channel activity. METHODS: The functional effects of sumoylation on KV 11...
September 9, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28880023/sudden-infant-death-syndrome-and-inherited-cardiac-conditions
#14
REVIEW
Alban-Elouen Baruteau, David J Tester, Jamie D Kapplinger, Michael J Ackerman, Elijah R Behr
Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant mortality in developed countries, characterized by the death of infants for no obvious reason and without prior warning. The complex interaction of multiple factors in the pathogenesis of SIDS is illustrated by the 'triple risk hypothesis', which proposed that SIDS results from a convergence of three overlapping risk factors: a critical developmental period, an exogenous stressor, and underlying genetic and/or nongenetic vulnerability in the infant...
September 7, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28878587/arrhythmogenic-right-ventricular-cardiomyopathy-in-an-endurance-athlete-presenting-with-ventricular-tachycardia-and-normal-right-ventricular-function
#15
Jeffrey S Hedley, Ibhar Al Mheid, Zoubin Alikhani, Maria A Pernetz, Jonathan H Kim
Arrhythmogenic right ventricular cardiomyopathy, a genetically inherited disease that results in fibrofatty replacement of normal cardiac myocytes, has been associated with sudden cardiac death in athletes. Long-term participation in endurance exercise hastens the development of both the arrhythmic and structural arrhythmogenic right ventricular cardiomyopathy phenotypes. We describe the unusual case of a 34-year-old, symptomatic, female endurance athlete who had arrhythmogenic right ventricular cardiomyopathy in the presence of a structurally normal right ventricle...
August 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28867785/patch-clamp-recording-from-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-improving-action-potential-characteristics-through-dynamic-clamp
#16
Arie O Verkerk, Christiaan C Veerman, Jan G Zegers, Isabella Mengarelli, Connie R Bezzina, Ronald Wilders
Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) hold great promise for studying inherited cardiac arrhythmias and developing drug therapies to treat such arrhythmias. Unfortunately, until now, action potential (AP) measurements in hiPSC-CMs have been hampered by the virtual absence of the inward rectifier potassium current (IK1) in hiPSC-CMs, resulting in spontaneous activity and altered function of various depolarising and repolarising membrane currents. We assessed whether AP measurements in "ventricular-like" and "atrial-like" hiPSC-CMs could be improved through a simple, highly reproducible dynamic clamp approach to provide these cells with a substantial IK1 (computed in real time according to the actual membrane potential and injected through the patch-clamp pipette)...
August 30, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28832094/initial-experience-of-catheter-ablation-for-cardiac-arrhythmias-in-children-and-adolescents-at-a-newly-built-ablation-centre
#17
Radosław Pietrzak, Piotr Lodziński, Tomasz Książczyk, Paweł Balsam, Monika Gawałko, Grzegorz Opolski, Bożena Werner
BACKGROUND: Catheter ablation (CA) therapy is the first choice treatment in adults with heart rhythm disturbances. The arrhythmias in adults are mainly conditioned by coronary disease. Etiology of arrhythmias in children is mostly associated with inherited heart disorders. According to the current guidelines the CA is widely used in children, indicating the need to make it more achievable in pediatric population. AIM: To assess efficacy and safety of CA in children with different types of arrhythmias on the initial learning curve at newly built Ablation Center in The Independent Pediatric Hospital of Medical University of Warsaw...
August 23, 2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28818065/case-reports-of-two-pedigrees-with-recessive-arrhythmogenic-right-ventricular-cardiomyopathy-associated-with-homozygous-thr335ala-variant-in-dsg2
#18
Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W Koskenvuo
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. CASE PRESENTATION: We report two families (n = 20) in which a desmoglein-2 (DSG2) missense variant c...
August 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28816949/whole-exome-sequencing-identifies-a-kcnj12-mutation-as-a-cause-of-familial-dilated-cardiomyopathy
#19
Hai-Xin Yuan, Kai Yan, Dong-Yan Hou, Zhi-Yong Zhang, Hua Wang, Xin Wang, Juan Zhang, Xiao-Rong Xu, Yan-Hong Liang, Wen-Shu Zhao, Lin Xu, Lin Zhang
Dilated cardiomyopathy (DCM) is characterized by left ventricular dilation, and is associated with systolic dysfunction and increased action potential duration. Approximately 50% of DCM cases are caused by inherited gene mutations with genetic and phenotypic heterogeneity. Next generation sequencing may be useful in screening unknown mutations in such cases.A family was identified with DCM, in which the affected family members developed heart failure, arrhythmia, and sudden death. Probands and 4 affected family members underwent whole exome sequencing (WES), bioinformatics methods, and gene annotation to identify potentially causative variants...
August 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28807990/investigating-the-genetic-causes-of-sudden-unexpected-death-in-children-through-targeted-next-generation-sequencing-analysis
#20
Laura J Dewar, Miguel Alcaide, Daniel Fornika, Luisa D'Amato, Sanam Shafaatalab, Charles M Stevens, Thambirajah Balachandra, Susan M Phillips, Shubhayan Sanatani, Ryan D Morin, Glen F Tibbits
BACKGROUND: Inherited arrhythmia syndromes are responsible for a significant portion of autopsy-negative sudden unexpected death (SUD) cases, but molecular autopsy used to identify potentially causal variants is not routinely included in SUD investigations. We collaborated with a medical examiner's office to assist in finding a diagnosis for their autopsy-negative child SUD cases. METHODS AND RESULTS: 191 child SUD cases (<5 years of age) were selected for analyses...
August 2017: Circulation. Cardiovascular Genetics
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