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inherited arrhythmia

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https://www.readbyqxmd.com/read/28912206/clinical-yield-of-familial-screening-after-sudden-death-in-young-subjects-the-french-experience
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28797161/masked-inherited-primary-arrhythmia-syndromes-in-sudden-cardiac-death-patients-accompanied-by-coronary-vasospasm
#11
Ki Hong Lee, Hyung Wook Park, Jeong Nam Eun, Jeong Gwan Cho, Nam Sik Yoon, Mi Ran Kim, Yo Han Ku, Hyukjin Park, Seung Hun Lee, Jeong Han Kim, Min Chul Kim, Woo Jin Kim, Hyun Kuk Kim, Jae Yeong Cho, Keun-Ho Park, Doo Sun Sim, Hyun Ju Yoon, Kye Hun Kim, Young Joon Hong, Ju Han Kim, Youngkeun Ahn, Myung Ho Jeong, Jong Chun Park
BACKGROUND/AIMS: Coronary vasospasms are one of the important causes of sudden cardiac death (SCD). Provocation of coronary vasospasms can be useful, though some results may lead to false positives, with patients potentially experiencing recurrent SCD despite appropriate medical treatments. We hypothesized that it is not coronary vasospasms but inherited primary arrhythmia syndromes (IPAS) that underlie the development of SCD. METHODS: We analyzed 74 consecutive patients (3...
September 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28794082/loss-of-function-kcne2-variants-true-monogenic-culprits-of-long-qt-syndrome-or-proarrhythmic-variants-requiring-secondary-provocation
#12
Jason D Roberts, Andrew D Krahn, Michael J Ackerman, Ram K Rohatgi, Arthur J Moss, Babak Nazer, Rafik Tadros, Brenda Gerull, Shubhayan Sanatani, Yanushi D Wijeyeratne, Alban-Elouen Baruteau, Alison R Muir, Benjamin Pang, Julia Cadrin-Tourigny, Mario Talajic, Lena Rivard, David J Tester, Taylor Liu, Isaac R Whitman, Julianne Wojciak, Susan Conacher, Lorne J Gula, Peter Leong-Sit, Jaimie Manlucu, Martin S Green, Robert Hamilton, Jeff S Healey, Coeli M Lopes, Elijah R Behr, Arthur A Wilde, Michael H Gollob, Melvin M Scheinman
BACKGROUND: Insight into type 6 long-QT syndrome (LQT6), stemming from mutations in the KCNE2-encoded voltage-gated channel β-subunit, is limited. We sought to further characterize its clinical phenotype. METHODS AND RESULTS: Individuals with reported pathogenic KCNE2 mutations identified during arrhythmia evaluation were collected from inherited arrhythmia clinics and the Rochester long-QT syndrome (LQTS) registry. Previously reported LQT6 cases were identified through a search of the MEDLINE database...
August 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28793145/role-of-genetic-testing-in-inherited-cardiovascular-disease-a-review
#13
Allison L Cirino, Stephanie Harris, Neal K Lakdawala, Michelle Michels, Iacopo Olivotto, Sharlene M Day, Dominic J Abrams, Philippe Charron, Colleen Caleshu, Christopher Semsarian, Jodie Ingles, Harry Rakowski, Daniel P Judge, Carolyn Y Ho
Importance: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics...
August 9, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28789916/flecainide-reduces-ventricular-arrhythmias-in-patients-with-genotype-ryr2-positive-catecholaminergic-polymorphic-ventricular-tachycardia
#14
Fernando Wangüemert Pérez, Julio Salvador Hernández Afonso, María Del Val Groba Marco, Eduardo Caballero Dorta, Luis Álvarez Acosta, Oscar Campuzano Larrea, Guillermo Pérez, Josep Brugada Terradellas, Ramón Brugada Terradellas
INTRODUCTION AND OBJECTIVES: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease characterized by polymorphic or bidirectional ventricular arrhythmias (VA) triggered by physical or emotional stress in young people with a structurally normal heart. Beta-blockers are the cornerstone of treatment, while flecainide has recently been incorporated into the therapeutic arsenal. The aim of this study was to report our experience with this drug. METHODS: The cohort included 174 genotype-positive CPVT-patients from 7 families...
August 5, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#15
Gaetano Vacanti, Riccardo Maragna, Silvia G Priori, Andrea Mazzanti
PURPOSE OF REVIEW: In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called 'channelopathies' that are associated with sudden cardiac death (SCD) in children: long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). RECENT FINDINGS: We will discuss the latest diagnostic criteria for channelopathies released by the European Society of Cardiology, the new data on BrS in children and the recent evidence supporting a genotype-specific therapy for LQTS type 3...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28734073/differential-calcium-sensitivity-in-nav-1-5-mixed-syndrome-mutants
#16
Mena Abdelsayed, Alban-Elouen Baruteau, Karen Gibbs, Shubhayan Sanatani, Andrew D Krahn, Vincent Probst, Peter C Ruben
KEY POINTS: SCN5a mutations may express gain-of-function (Long QT Syndrome-3), loss-of-function (Brugada Syndrome 1) or both (mixed syndromes), depending on the mutation and environmental triggers. One such trigger may be an increase in cytosolic calcium, accompanying exercise. Many mixed syndromes mutants, including ∆KPQ, E1784K, 1795insD and Q1909R, are found in calcium-sensitive regions. Elevated cytosolic calcium attenuates gain-of-function properties in ∆KPQ, 1795insD and Q1909R, but not in E1784K...
September 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28721524/human-ipsc-derived-cardiomyocytes-for-investigation-of-disease-mechanisms-and-therapeutic-strategies-in-inherited-arrhythmia-syndromes-strengths-and-limitations
#17
Simona Casini, Arie O Verkerk, Carol Ann Remme
During the last two decades, significant progress has been made in the identification of genetic defects underlying inherited arrhythmia syndromes, which has provided some clinical benefit through elucidation of gene-specific arrhythmia triggers and treatment. However, for most arrhythmia syndromes, clinical management is hindered by insufficient knowledge of the functional consequences of the mutation in question, the pro-arrhythmic mechanisms involved, and hence the most optimal treatment strategy. Moreover, disease expressivity and sensitivity to therapeutic interventions often varies between mutations and/or patients, underlining the need for more individualized strategies...
July 18, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#18
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28713282/the-n-terminal-region-of-the-ryanodine-receptor-affects-channel-activation
#19
Andrea Faltinova, Nataša Tomaskova, Marián Antalik, Jozef Sevcik, Alexandra Zahradnikova
Mutations in the cardiac ryanodine receptor (RyR2), the ion channel responsible for release of calcium ions from intracellular stores into cytoplasm, are the cause of several inherited cardiac arrhythmias. At the molecular level, disease symptoms can be mimicked by domain peptides from mutation-prone regions of RyR2 that bind to RyR2 and activate it. Here we show that the domain peptide DPcpvtN2, corresponding to the central helix of the N-terminal region of RyR2, activates the RyR2 channel. Structural modeling of interaction between DPcpvtN2 and the N-terminal region of RyR2 in the closed and open conformation provided three plausible structures of the complex...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28711156/towards-a-structural-view-of-drug-binding-to-herg-k-channels
#20
REVIEW
Jamie I Vandenberg, Eduardo Perozo, Toby W Allen
The human ether-a-go-go-related gene (hERG) K(+) channel is of great medical and pharmaceutical relevance. Inherited mutations in hERG result in congenital long-QT syndrome which is associated with a markedly increased risk of cardiac arrhythmia and sudden death. hERG K(+) channels are also remarkably susceptible to block by a wide range of drugs, which in turn can cause drug-induced long-QT syndrome and an increased risk of sudden death. The recent determination of the near-atomic resolution structure of the hERG K(+) channel, using single-particle cryo-electron microscopy (cryo-EM), provides tremendous insights into how these channels work...
July 12, 2017: Trends in Pharmacological Sciences
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