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catecholaminergic polymorphic ventricular tachycardia

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https://www.readbyqxmd.com/read/28336343/viral-delivered-gene-therapy-to-treat-catecholamine-dependent-polymorphic-ventricular-tachycardia-cpvt2-in-mouse-models
#1
Efrat Kurtzwald-Josefson, Dor Yadin, Shiraz Harun-Khun, Maayan Waldman, Dan Aravot, Asher Shainberg, Michael Eldar, Edith Hochhauser, Michael Arad
BACKGROUND: The recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT2) is caused by mutations in cardiac calsequestrin (CASQ2), leading to protein defficiency. OBJECTIVE: To develop a viral-delivered gene therapy for CPVT2 and determine the relationship between CASQ2 expression and the antiarrhythmic efficacy in a murine model. METHODS: We used a murine model of CPVT2 caused by the D307H human mutation (CASQ2(D307H)) or CASQ2 knock-out (CASQ2(Δ/Δ))...
March 20, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28318666/cardiac-sympathetic-denervation-100years-later-jonnesco-would-have-never-believed-it
#2
Peter J Schwartz, Gaetano M De Ferrari, Luigi Pugliese
One hundred years have elapsed since Thomas Jonnesco performed the first left cardiac sympathetic denervation (LCSD) in a patient with unmanageable angina pectoris and ventricular tachyarrhythmias, and the progress in the field has surpassed imagination. Here we will review the historic basis of cardiac sympathectomy for the management of life-threatening arrhythmias and will then discuss the often forgotten critical experimental studies that provided the rationale for the amazing growth of its role in clinical management...
March 8, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28275941/what-is-the-role-of-cardiac-sympathetic-denervation-for-recurrent-ventricular-tachycardia
#3
REVIEW
Jonathan C Hong, Todd Crawford, Harikrishna Tandri, Kaushik Mandal
There is a subset of patients who have recurrent ventricular tachycardia despite optimal medical management with pharmacologic therapy and catheter ablation. The cardiac sympathetic nervous system is responsible for triggering and perpetuating ventricular arrhythmias, and surgery can reduce the sympathetic stimulation to the heart. Evidence supports the use of left cardiac sympathetic denervation in recurrent ventricular arrhythmias for long QT syndrome and catecholaminergic polymorphic ventricular tachycardia...
February 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28266935/genetic-causes-of-sudden-cardiac-death-in-the-young
#4
Andrea Mazzanti, Riccardo Maragna, Silvia G Priori
PURPOSE OF REVIEW: In this article, we discuss the most recent and relevant studies published in the field of inherited arrhythmogenic disorders, focusing in particular on channelopathies (Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia) and arrhythmogenic right ventricular cardiomyopathy (ARVC). RECENT FINDINGS: We discuss the updated diagnostic criteria for channelopathies released by the European Society of Cardiology, the new results on the value of programmed electrical stimulation in patients with Brugada syndrome, and the recent evidences supporting a genotype-specific therapy for Long QT syndrome type 3...
March 6, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28238200/left-cardiac-sympathetic-denervation-case-series-and-technical-report
#5
C McNamara, P Cullen, M Rackauskas, R Kelly, K E O'Sullivan, J Galvin, D Eaton
BACKGROUND: Left cardiac sympathetic denervation (LCSD) is a surgical procedure that has been shown to have an antiarrhythmic and antifibrillatory effect. Evidence indicating its antiarrhythmic effect has been available for over 100 years. It involves the removal of the lower half of the stellate ganglion and T2-T4 of the sympathetic ganglia and is carried out as either a unilateral or bilateral procedure. With advancements in thoracic surgery, it can be safely performed via a minimally invasive Video-Assisted Thoracoscopic Surgery (VATS) approach resulting in significantly less morbidity and a shortened inpatient stay...
February 25, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28237968/nationwide-experience-of-catecholaminergic-polymorphic-ventricular-tachycardia-caused-by-ryr2-mutations
#6
Anders Krogh Broendberg, Jens Cosedis Nielsen, Jesper Bjerre, Lisbeth Noerum Pedersen, Jens Kristensen, Finn Lund Henriksen, Henning Bundgaard, Henrik Kjaerulf Jensen
OBJECTIVE: The aim of this study was to characterise disease penetrance, course of disease and use of antiarrhythmic medication and implantable cardioverter-defibrillator (ICD) therapy in a Danish nationwide cohort of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) due to mutations in the ryanodine receptor-2 (RyR2) gene. METHODS: The study population was identified through the national hereditary heart disease database (Progeny). The study population was divided into three groups: probands, symptomatic and asymptomatic relatives...
February 25, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28219898/sk4-k-channels-are-therapeutic-targets-for-the-treatment-of-cardiac-arrhythmias
#7
Shiraz Haron-Khun, David Weisbrod, Hanna Bueno, Dor Yadin, Joachim Behar, Asher Peretz, Ofer Binah, Edith Hochhauser, Michael Eldar, Yael Yaniv, Michael Arad, Bernard Attali
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a stress-provoked ventricular arrhythmia, which also manifests sinoatrial node (SAN) dysfunction. We recently showed that SK4 calcium-activated potassium channels are important for automaticity of cardiomyocytes derived from human embryonic stem cells. Here SK4 channels were identified in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from healthy and CPVT2 patients bearing a mutation in calsequestrin 2 (CASQ2-D307H) and in SAN cells from WT and CASQ2-D307H knock-in (KI) mice...
February 20, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28158428/the-clinical-and-genetic-spectrum-of-catecholaminergic-polymorphic-ventricular-tachycardia-findings-from-an-international-multicentre-registry
#8
Thomas M Roston, Zhiguang Yuchi, Prince J Kannankeril, Julie Hathaway, Jeffrey M Vinocur, Susan P Etheridge, James E Potts, Kathleen R Maginot, Jack C Salerno, Mitchell I Cohen, Robert M Hamilton, Andreas Pflaumer, Saira Mohammed, Lynn Kimlicka, Ronald J Kanter, Martin J LaPage, Kathryn K Collins, Roman A Gebauer, Joel D Temple, Anjan S Batra, Christopher Erickson, Maria Miszczak-Knecht, Peter Kubuš, Yaniv Bar-Cohen, Michal Kantoch, Vincent C Thomas, Gabriele Hessling, Chris Anderson, Ming-Lon Young, Sally H J Choi, Michel Cabrera Ortega, Yung R Lau, Christopher L Johnsrude, Anne Fournier, Filip Van Petegem, Shubhayan Sanatani
No abstract text is available yet for this article.
January 31, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28146053/cardiac-channelopathies-and-sudden-death-recent-clinical-and-genetic-advances
#9
REVIEW
Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Josep Brugada, Ramon Brugada, Oscar Campuzano
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia)...
January 29, 2017: Biology
https://www.readbyqxmd.com/read/28110572/-cardiomyopathy-and-ion-channel-diseases-registry-the-szeged-cardiogen-registry
#10
Péter Blazsó, Kornél Kákonyi, Tamás Forster, Róbert Sepp
The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia)...
January 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28100344/-recurrent-syncope-related-to-catecholaminergic-polymorphic-ventricular-tachycardia-due-to-de-novo-ryr2-r2401h-mutation
#11
X Liu, J X Li, J Z Hu, Y Shen, R Wan, Q M Xiong, Q Q Zhou, J Y Xie, J J Jin, X Yan, J H Yu, K Hong
Objective: To explore the clinical and molecular genetic features of a Chinese patient with catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods: Clinical data including resting electrocardiography, echocardiography and treadmill exercise testing of a patient with CPVT admitted to our department in March 2013 were analyzed, and the peripheral venous blood samples of the patient and his family members and 400 ethnicity-matched healthy controls were obtained. All exons and exon-intron boundaries of the six CPVT-related genes including RYR2, CASQ2, TRDN, CALM1, KCNJ2 and ANKB were sequenced to detect the variants related to CPVT...
January 25, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28096415/increased-mitochondrial-nanotunneling-activity-induced-by-calcium-imbalance-affects-intermitochondrial-matrix-exchanges
#12
Manuela Lavorato, V Ramesh Iyer, Williams Dewight, Ryan R Cupo, Valentina Debattisti, Ludovic Gomez, Sergio De la Fuente, Yan-Ting Zhao, Héctor H Valdivia, György Hajnóczky, Clara Franzini-Armstrong
Exchanges of matrix contents are essential to the maintenance of mitochondria. Cardiac mitochondrial exchange matrix content in two ways: by direct contact with neighboring mitochondria and over longer distances. The latter mode is supported by thin tubular protrusions, called nanotunnels, that contact other mitochondria at relatively long distances. Here, we report that cardiac myocytes of heterozygous mice carrying a catecholaminergic polymorphic ventricular tachycardia-linked RyR2 mutation (A4860G) show a unique and unusual mitochondrial response: a significantly increased frequency of nanotunnel extensions...
January 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28012210/elimination-of-ventricular-arrhythmia-in-catecholaminergic-polymorphic-ventricular-tachycardia-by-targeting-catecholamine-sensitive-area-a-dominant-subordinate-relationship-between-origin-sites-of-bidirectional-ventricular-premature-contractions
#13
Yasuhiro Shirai, Masahiko Goya, Seiko Ohno, Minoru Horie, Shozaburo Doi, Mitsuaki Isobe, Kenzo Hirao
We report on a patient diagnosed with CPVT who underwent catheter ablation of VPCs induced by epinephrine. VPCs were classified roughly into 3 types. Type 1 and Type 2 VPCs (RBBB configuration and inferior axis) were eliminated by radio frequency applications at the left aortic sinus of Valsalva and the anterolateral papillary muscle (APM), respectively. Although no spontaneous VPCs were seen after the elimination of Type 1 and 2 VPCs, pacing resulting in capture at the APM induced type 3 VPC (RBBB configuration and superior axis) reproducibly...
December 24, 2016: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28012188/video-assisted-thoracoscopic-left-cardiac-sympathetic-denervation-in-patients-with-hereditary-ventricular-arrhythmias
#14
Se Yong Jang, Yongkeun Cho, Nam Kyun Kim, Chang-Yeon Kim, Jihyun Sohn, Jae-Hyung Roh, Myung Hwan Bae, Jang Hoon Lee, Dong Heon Yang, Hun Sik Park, Shung Chull Chae, Tak-Hyuk Oh, Gun Jik Kim
BACKGROUND: Left cardiac sympathetic denervation (LCSD) has been underutilized in patients with hereditary ventricular arrhythmia syndromes such as congenital long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). The purpose of this study was to investigate the safety and efficacy of video-assisted thoracoscopic (VATS) LCSD in such patients. METHODS: Fifteen patients (four men, 24.6 ± 10.5 years old) who underwent VATS-LCSD between November 2010 and January 2015 for hereditary ventricular arrhythmia syndromes at Kyungpook National University Hospital were enrolled in this study...
March 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/27988446/a-novel-variant-in-ryr2-causes-familiar-catecholaminergic-polymorphic-ventricular-tachycardia
#15
Cristina Bosch, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Alexandra Perez-Serra, Monica Coll, Irene Mademont, Jesus Mates, Bernat Del Olmo, Anna Iglesias, Josep Brugada, Volker Petersen, Ramon Brugada
Catecholaminergic polymorphic ventricular tachycardia is a rare familial arrhythmogenic disease. It usually occurs in juvenile patients with a structurally normal heart and causes exercise-emotion triggered syncope and sudden cardiac death. The main gene associated with catecholaminergic polymorphic ventricular tachycardia is RyR2, encoding the cardiac ryanodine receptor protein which is involved in calcium homeostasis. After the identification of a 16 year-old man presenting with exercise-induced sudden cardiac death, clinically diagnosed as catecholaminergic polymorphic ventricular tachycardia, we collected the family information and performed a comprehensive genetic analysis using Next Generation Sequencing technology...
December 9, 2016: Forensic Science International
https://www.readbyqxmd.com/read/27909533/patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes-for-drug-development-and-screening-in-catecholaminergic-polymorphic-ventricular-tachycardia
#16
REVIEW
Ben Jehuda Ronen, Barad Lili
Catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmia often leading to sudden cardiac death in children and young adults, is characterized by polymorphic/bidirectional ventricular tachycardia induced by adrenergic stimulation associated with emotionally stress or physical exercise. There are two forms of CPVT: 1. CPVT1 is caused by mutations in the RYR2 gene, encoding for ryanodine receptor type 2. CPVT1 is the most common form of CPVT in the population, and is inherited by a dominant mechanism...
August 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27861184/catecholaminergic-polymorphic-ventricular-tachycardia-a-model-for-genotype-specific-therapy
#17
Thomas M Roston, Filip Van Petegem, Shubhayan Sanatani
PURPOSE OF REVIEW: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening syndrome defined by exercise-induced or emotion-induced ventricular arrhythmias, typically caused by gain-of-function mutations in RYR2-encoded ryanodine receptor-2 (RyR2). This review will discuss recent advances and ongoing challenges in devising genotype-specific CPVT therapies. RECENT FINDINGS: CPVT patients were once universally thought to be at high risk of sudden death; however, as more cases emerge, CPVT is being re-defined as a complex syndrome of variable expressivity...
January 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/27861123/tecrl-a-new-life-threatening-inherited-arrhythmia-gene-associated-with-overlapping-clinical-features-of-both-lqts-and-cpvt
#18
Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie-A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer-Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine Af de Vries, Léna Rivard, Arthur Am Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al-Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier
Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans-2,3-enoyl-CoA reductase-like protein. Both patients had cardiac arrest, stress-induced atrial and ventricular tachycardia, and QT prolongation on adrenergic stimulation...
2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27844191/-indications-for-implantable-loop-recorders-in-patients-with-channelopathies-and-ventricular-tachycardias
#19
Julia Köbe, Kristina Wasmer, Florian Reinke, Lars Eckardt
Implantable loop recorders (ILR) do not play a pivotal role in the current guidelines on ventricular arrhythmias except in identifying rhythm-symptom correlations if ventricular arrhythmias are assumed. Before a decision for a pure diagnostic implantable device is made, a thorough arrhythmic risk assessment is of major importance due to the potential lethal outcome of ventricular arrhythmias. Nevertheless, some clinical circumstances exist where long-term monitoring by an ILR may add significant information in electrical heart diseases, in patients with ventricular arrhythmias, or structural heart diseases and a potential risk of ventricular arrhythmias...
December 2016: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/27764147/patient-specific-human-induced-pluripotent-stem-cell-model-assessed-with-electrical-pacing-validates-s107-as-a-potential-therapeutic-agent-for-catecholaminergic-polymorphic-ventricular-tachycardia
#20
Kenichi Sasaki, Takeru Makiyama, Yoshinori Yoshida, Yimin Wuriyanghai, Tsukasa Kamakura, Suguru Nishiuchi, Mamoru Hayano, Takeshi Harita, Yuta Yamamoto, Hirohiko Kohjitani, Sayako Hirose, Jiarong Chen, Mihoko Kawamura, Seiko Ohno, Hideki Itoh, Ayako Takeuchi, Satoshi Matsuoka, Masaru Miura, Naokata Sumitomo, Minoru Horie, Shinya Yamanaka, Takeshi Kimura
INTRODUCTION: Human induced pluripotent stem cells (hiPSCs) offer a unique opportunity for disease modeling. However, it is not invariably successful to recapitulate the disease phenotype because of the immaturity of hiPSC-derived cardiomyocytes (hiPSC-CMs). The purpose of this study was to establish and analyze iPSC-based model of catecholaminergic polymorphic ventricular tachycardia (CPVT), which is characterized by adrenergically mediated lethal arrhythmias, more precisely using electrical pacing that could promote the development of new pharmacotherapies...
2016: PloS One
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