
浏览全部资源
扫码关注微信
一.前言原发性遗传性心律失常是由编码心肌细胞离子通道或参与其调节的蛋白质的基因突变导致离子电流异常、心电生理异常和室性心动过速(Ventricular tachycardia
VT)简称室速和心室颤动(Ventricular fibrillation
VF)等恶性心律失常,是年轻人心脏性猝死(Sudden cardiac death
SCD)的主要原因之一。
陈英,卢婧,季涛云,吴林.长QT综合征合并晕厥和抽搐与癫痫的鉴别诊断[J].中华心血管病杂志,2023(07).
中华医学会心血管病学分会,中国生物医学工程学会心律分会.抗心律失常药物临床应用中国专家共识[J].中华心血管病杂志,2023(03).
吴林,彭军,李槟汛.Brugada综合征:传统认识与更新[J].临床心电学杂志,2020(03).
中华心血管病杂志编辑委员会心律失常循证工作组.遗传性原发性心律失常综合征诊断与治疗中国专家共识[J].中华心血管病杂志,2015(01).
Zeppenfeld Katja,TfeltHansen Jacob,de Riva Marta,Winkel Bo Gregers,Behr Elijah R,Blom Nico A,Charron Philippe,Corrado Domenico,Dagres Nikolaos,de Chillou Christian,Eckardt Lars,Friede Tim,Haugaa Kristina H,Hocini Mélèze,Lambiase Pier D,Marijon Eloi,Merino Jose L,Peichl Petr,Priori Silvia G,Reichlin Tobias,SchulzMenger Jeanette,Sticherling Christian,Tzeis Stylianos,Verstrael Axel,Volterrani Maurizio.2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death.[J].European heart journal,2022.
Wilde Arthur A M,Semsarian Christopher,Márquez Manlio F,Sepehri Shamloo Alireza,Ackerman Michael J,Ashley Euan A,Sternick Eduardo Back,BarajasMartinez Héctor,Behr Elijah R,Bezzina Connie R,Breckpot Jeroen,Charron Philippe,Chockalingam Priya,Crotti Lia,Gollob Michael H,Lubitz Steven,Makita Naomasa,Ohno Seiko,OrtizGenga Martín,Sacilotto Luciana,SchulzeBahr Eric,Shimizu Wataru,Sotoodehnia Nona,Tadros Rafik,Ware James S,Winlaw David S,Kaufman Elizabeth S.European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.[J].Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology,2022.
Dusi Veronica,Pugliese Luigi,De Ferrari Gaetano M.,Odero Attilio,Crotti Lia,Dagradi Federica,Castelletti Silvia,Vicentini Alessandro,Rordorf Roberto,Li Cuilan,Shkolnikova Maria,Spazzolini Carla,Schwartz Peter J..Left Cardiac Sympathetic Denervation for Long QT Syndrome: 50 Years’ Experience Provides Guidance for Management[J].JACC: Clinical Electrophysiology,2021.
Kim Jitae A,Chelu Mihail G.Inherited Arrhythmia Syndromes.[J].Texas Heart Institute journal,2021.
Niels Kjær Stampe,Camilla Bang Jespersen,Charlotte Glinge,Henning Bundgaard,Jacob Tfelt‐Hansen,Bo Gregers Winkel.Clinical characteristics and risk factors of arrhythmia during follow‐up of patients with Idiopathic Ventricular Fibrillation[J].Journal of Cardiovascular Electrophysiology,2020.
Wahbi Karim,Ben Yaou Rabah,Gandjbakhch Estelle,Anselme Frédéric,Gossios Thomas,Lakdawala Neal K,Stalens Caroline,Sacher Frédéric,Babuty Dominique,Trochu Jean-Noel,Moubarak Ghassan,Savvatis Kostantinos,Porcher Raphaël,Laforêt Pascal,Fayssoil Abdallah,Marijon Eloi,Stojkovic Tanya,Béhin Anthony,Leonard-Louis Sarah,Sole Guilhem,Labombarda Fabien,Richard Pascale,Metay Corinne,Quijano-Roy Susana,Dabaj Ivana,Klug Didier,Vantyghem Marie-Christine,Chevalier Philippe,Ambrosi Pierre,Salort Emmanuelle,Sadoul Nicolas,Waintraub Xavier,Chikhaoui Khadija,Mabo Philippe,Combes Nicolas,Maury Philippe,Sellal Jean-Marc,Tedrow Usha B,Kalman Jonathan M,Vohra Jitendra,Androulakis Alexander F A,Zeppenfeld Katja,Thompson Tina,Barnerias Christine,Bécane Henri-Marc,Bieth Eric,Boccara Franck,Bonnet Damien,Bouhour Françoise,Boulé Stéphane,Brehin Anne-Claire,Chapon Françoise,Cintas Pascal,Cuisset Jean-Marie,Davy Jean-Marc,De Sandre-Giovannoli Annachiara,Demurger Florence,Desguerre Isabelle,Dieterich Klaus,Durigneux Julien,Echaniz-Laguna Andoni,Eschalier Romain,Ferreiro Ana,Ferrer Xavier,Francannet Christine,Fradin Mélanie,Gaborit Bénédicte,Gay Arnaud,Hagège Albert,Isapof Arnaud,Jeru Isabelle,Juntas Morales Raul,Lagrue Emmanuelle,Lamblin Nicolas,Lascols Olivier,Laugel Vincent,Lazarus Arnaud,Leturcq France,Levy Nicolas,Magot Armelle,Manel Véronique,Martins Raphaël,Mayer Michèle,Mercier Sandra,Meune Christophe,Michaud Maud,Minot-Myhié Marie-Christine,Muchir Antoine,Nadaj-Pakleza Aleksandra,Péréon Yann,Petiot Philippe,Petit Florence,Praline Julien,Rollin Anne,Sabouraud Pascal,Sarret Catherine,Schaeffer Stéphane,Taithe Frederic,Tard Céline,Tiffreau Vincent,Toutain Annick,Vatier Camille,Walther-Louvier Ulrike,Eymard Bruno,Charron Philippe,Vigouroux Corinne,Bonne Gisèle,Kumar Saurabh,Elliott Perry,Duboc Denis.Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.[J].Circulation,2019.
Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (J.M.B., R.K.R., M.J.A.), Mayo Clinic, Rochester, MN.,Department of Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory) (J.M.B., M.J.A.), Mayo Clinic, Rochester, MN.,Istituto Auxologico Italiano, IRCCS, Center for Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., S.C., F.D., P.J.S.).,Department of Medicine and Surgery, University of Milano-Bicocca, Italy (L.C.).,Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy (L.C.).,Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (J.M.B., R.K.R., M.J.A.), Mayo Clinic, Rochester, MN.,Istituto Auxologico Italiano, IRCCS, Center for Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., S.C., F.D., P.J.S.).,Istituto Auxologico Italiano, IRCCS, Center for Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., S.C., F.D., P.J.S.).,Istituto Auxologico Italiano, IRCCS, Center for Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (L.C., S.C., F.D., P.J.S.).,Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine (J.M.B., R.K.R., M.J.A.), Mayo Clinic, Rochester, MN.,Department of Molecular Pharmacology and Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory) (J.M.B., M.J.A.), Mayo Clinic, Rochester, MN.,Division of Heart Rhythm Services, Department of Cardiovascular Medicine (M.J.A.), Mayo Clinic, Rochester, MN..Mexiletine Shortens the QT Interval in Patients With Potassium Channel-Mediated Type 2 Long QT Syndrome.[J].Circulation. Arrhythmia and electrophysiology,2019.
Navraj Malhi,Christopher C. Cheung,Bishoy Deif,Jason D. Roberts,Lorne J. Gula,Martin S. Green,Benjamin Pang,Omar Sultan,Kaja M. Konieczny,Paul Angaran,Paul Dorian,Ilan Lashevsky,Jeff S. Healey,Aiman Alak,Rafik Tadros,Antoine Andorin,Christian Steinberg,Felix Ayala-Paredes,Christopher S. Simpson,Joseph Atallah,Andrew D. Krahn.Challenge and Impact of Quinidine Access in Sudden Death Syndromes[J].JACC: Clinical Electrophysiology,2019.
Al-Khatib Sana M,Stevenson William G,Ackerman Michael J,Bryant William J,Callans David J,Curtis Anne B,Deal Barbara J,Dickfeld Timm,Field Michael E,Fonarow Gregg C,Gillis Anne M,Granger Christopher B,Hammill Stephen C,Hlatky Mark A,Joglar José A,Kay G Neal,Matlock Daniel D,Myerburg Robert J,Page Richard L.2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.[J].Circulation,2018.
National Heart Research Institute Singapore, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,Cardiovascular Academic Clinical Program, Duke-NUS Medical School, 8 College Road, Singapore 169857, Singapore.,National Heart Research Institute Singapore, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,National Heart Research Institute Singapore, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,National Heart Research Institute Singapore, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,National Heart Research Institute Singapore, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS, Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.,Department of Cardiothoracic and Vascular Sciences-Coronary Care Unit and Laboratory of Clinical and Experimental Cardiology, Fondazione IRCCS Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.,Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Viale Golgi, 19, 27100, Pavia, Italy.,Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Viale Golgi, 19, 27100, Pavia, Italy.,IRCCS Istituto Auxologico Italiano, San Luca Hospital, Piazzale Brescia 20, 20149 Milan, Italy.,IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, via Pier Lombardo 22, 20135 Milan, Italy.,Department of Cardiology, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, via Pier Lombardo 22, 20135 Milan, Italy.,Laboratory of Experimental Cardiology for Cell and Molecular Therapy, Fondazione IRCCS, Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.,Department of Cardiothoracic and Vascular Sciences-Coronary Care Unit and Laboratory of Clinical and Experimental Cardiology, Fondazione IRCCS Policlinico San Matteo, Viale Golgi 19, 27100 Pavia, Italy.,Department of Molecular Medicine, Unit of Cardiology, University of Pavia, Viale Golgi, 19, 27100, Pavia, Italy.,Department of Medicine, University of Cape Town, Old main Building, J-Floor Groote Schuur Hospital Observatory Cape Town 7925, South Africa.,National Heart Research Institute Singapore, National Heart Centre Singapore, 5 Hospital Drive, Singapore 169609, Singapore.,Cardiovascular & Metabolic Disorders Program, Duke-NUS Medical School, 8 College Road, Singapore 169857, Singapore..Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model.[J].European heart journal,2018.
Department of Cardiology, Peking University First Hospital, Beijing, China.,Department of Cardiology, Peking University First Hospital, Beijing, China.,Physiological laboratory, University of Cambridge, Cambridge, UK.,Department of Pharmacology, University of Oxford, Oxford, UK. ming.lei@pharm.ox.ac.uk.,Key Laboratory of Medical Electrophysiology, Ministry of Education, Collaborative Innovation Center for Prevention and Treatment of Cardiovascular Disease/Institute of Cardiovascular Research, Southwest Medical University, Luzhou, China. ming.lei@pharm.ox.ac.uk.,wu@163.com.,wu@163.com.,wu@163.com..Late sodium current associated cardiac electrophysiological and mechanical dysfunction.[J].Pflugers Archiv : European journal of physiology,2018.
Conte Giulio,Caputo Maria Luce,Regoli François,Marcon Serena,Klersy Catherine,Adjibodou Boris,Del Bufalo Alessandro,Moccetti Tiziano,Auricchio Angelo.True idiopathic ventricular fibrillation in out-of-hospital cardiac arrest survivors in the Swiss Canton Ticino: prevalence, clinical features, and long-term follow-up.[J].Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology,2017.
Charles Antzelevitch,Gan-Xin Yan,Michael J. Ackerman,Martin Borggrefe,Domenico Corrado,Jihong Guo,Ihor Gussak,Can Hasdemir,Minoru Horie,Heikki Huikuri,Changsheng Ma,Hiroshi Morita,Gi-Byoung Nam,Frederic Sacher,Wataru Shimizu,Sami Viskin,Arthur A.M. Wilde.J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge[J].Heart Rhythm,2016.
Bence Patocskai,Hector Barajas-Martinez,Dan Hu,Zsolt Gurabi,István Koncz,Charles Antzelevitch.Cellular and ionic mechanisms underlying the effects of cilostazol, milrinone, and isoproterenol to suppress arrhythmogenesis in an experimental model of early repolarization syndrome[J].Heart Rhythm,2016.
Visser Marloes,van der Heijden Jeroen F,Doevendans Pieter A,Loh Peter,Wilde Arthur A,Hassink Rutger J.Idiopathic Ventricular Fibrillation: The Struggle for Definition, Diagnosis, and Follow-Up.[J].Circulation. Arrhythmia and electrophysiology,2016.
Priori Silvia Giuliana,Blomström-Lundqvist Carina.2015 European Society of Cardiology Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death summarized by co-chairs.[J].European heart journal,2015.
Roston Thomas M,Vinocur Jeffrey M,Maginot Kathleen R,Mohammed Saira,Salerno Jack C,Etheridge Susan P,Cohen Mitchell,Hamilton Robert M,Pflaumer Andreas,Kanter Ronald J,Potts James E,LaPage Martin J,Collins Kathryn K,Gebauer Roman A,Temple Joel D,Batra Anjan S,Erickson Christopher,Miszczak-Knecht Maria,Kubuš Peter,Bar-Cohen Yaniv,Kantoch Michal,Thomas Vincent C,Hessling Gabriele,Anderson Chris,Young Ming-Lon,Cabrera Ortega Michel,Lau Yung R,Johnsrude Christopher L,Fournier Anne,Ka.Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry.[J].Circulation. Arrhythmia and electrophysiology,2015.
Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Smartech, Milan, Italy,Smartech, Milan, Italy,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York,Molecular Cardiology, IRCCS Salvatore Maugeri Foundation, Pavia, Italy,Cardiovascular Genetics Program, Leon H. Charney Division of Cardiology, New York University School of Medicine, New York, New York,Department of Molecular Medicine, University of Pavia, Pavia, Italy.Novel Insight Into the Natural History of Short QT Syndrome[J].Journal of the American College of Cardiology,2014.
Priori Silvia G,Wilde Arthur A,Horie Minoru,Cho Yongkeun,Behr Elijah R,Berul Charles,Blom Nico,Brugada Josep,Chiang Chern-En,Huikuri Heikki,Kannankeril Prince,Krahn Andrew,Leenhardt Antoine,Moss Arthur,Schwartz Peter J,Shimizu Wataru,Tomaselli Gordon,Tracy Cynthia,Ackerman Michael,Belhassen Bernard,Estes N A Mark,Fatkin Diane,Kalman Jonathan,Kaufman Elizabeth,Kirchhof Paulus,Schulze-Bahr Eric,Wolpert Christian,Vohra Jitendra,Refaat Marwan,Etheridge Susan P,Campbell Robert M,Ma.Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.[J].Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology,2013.
Yoshino Minoura,Brian K. Panama,Vladislav V. Nesterenko,Matthew Betzenhauser,Hector Barajas-Martínez,Dan Hu,José M. Di Diego,Charles Antzelevitch.Effect of Wenxin Keli and quinidine to suppress arrhythmogenesis in an experimental model of Brugada syndrome[J].Heart Rhythm,2013.
Yoshiyasu Aizawa,Hiroyuki Yamakawa,Seiji Takatsuki,Yoshinori Katsumata,Takahiko Nishiyama,Takehiro Kimura,Nobuhiro Nishiyama,Kotaro Fukumoto,Yoko Tanimoto,Kojiro Tanimoto,Hideo Mitamura,Satoshi Ogawa,Keiichi Fukuda.Efficacy and safety of bepridil for prevention of ICD shocks in patients with Brugada syndrome and idiopathic ventricular fibrillation[J].International Journal of Cardiology,2013.
Yoshifusa Aizawa,Masaomi Chinushi,Kanae Hasegawa,Nobu Naiki,Minoru Horie,Yoshiaki Kaneko,Masahiko Kurabayashi,Shogo Ito,Tsutomu Imaizumi,Yoshiyasu Aizawa,Seiji Takatsuki,Kunitake Joo,Masahito Sato,Katsuya Ebe,Yukio Hosaka,Michel Haissaguerre,Keiichi Fukuda.Electrical Storm in Idiopathic Ventricular Fibrillation Is Associated With Early Repolarization[J].Journal of the American College of Cardiology,2013.
Barsheshet Alon,Goldenberg Ilan,O-Uchi Jin,Moss Arthur J,Jons Christian,Shimizu Wataru,Wilde Arthur A,McNitt Scott,Peterson Derick R,Zareba Wojciech,Robinson Jennifer L,Ackerman Michael J,Cypress Michael,Gray Daniel A,Hofman Nynke,Kanters Jorgen K,Kaufman Elizabeth S,Platonov Pyotr G,Qi Ming,Towbin Jeffrey A,Vincent G Michael,Lopes Coeli M.Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.[J].Circulation,2012.
Christian van der Werf,Prince J. Kannankeril,Frederic Sacher,Andrew D. Krahn,Sami Viskin,Antoine Leenhardt,Wataru Shimizu,Naokata Sumitomo,Frank A. Fish,Zahurul A. Bhuiyan,Albert R. Willems,Maurits J. van der Veen,Hiroshi Watanabe,Julien Laborderie,Michel Haïssaguerre,Björn C. Knollmann,Arthur A.M. Wilde.Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia[J].Journal of the American College of Cardiology,2011.
Carla Giustetto,Rainer Schimpf,Andrea Mazzanti,Chiara Scrocco,Philippe Maury,Olli Anttonen,Vincent Probst,Jean-Jacques Blanc,Pascal Sbragia,Paola Dalmasso,Martin Borggrefe,Fiorenzo Gaita.Long-Term Follow-Up of Patients With Short QT Syndrome[J].Journal of the American College of Cardiology,2011.
Haïssaguerre Michel,Derval Nicolas,Sacher Frederic,Jesel Laurence,Deisenhofer Isabel,de Roy Luc,Pasquié Jean-Luc,Nogami Akihiko,Babuty Dominique,Yli-Mayry Sinikka,De Chillou Christian,Scanu Patrice,Mabo Philippe,Matsuo Seiichiro,Probst Vincent,Le Scouarnec Solena,Defaye Pascal,Schlaepfer Juerg,Rostock Thomas,Lacroix Dominique,Lamaison Dominique,Lavergne Thomas,Aizawa Yoshifusa,Englund Anders,Anselme Frederic,O'Neill Mark,Hocini Meleze,Lim Kang Teng,Knecht Sebastien,Veenhuyzen Ge.Sudden cardiac arrest associated with early repolarization.[J].The New England journal of medicine,2008.
Takeshi Ohgo,Hideo Okamura,Takashi Noda,Kazuhiro Satomi,Kazuhiro Suyama,Takashi Kurita,Naohiko Aihara,Shiro Kamakura,Tohru Ohe,Wataru Shimizu.Acute and chronic management in patients with Brugada syndrome associated with electrical storm of ventricular fibrillation[J].Heart Rhythm,2007.
Nador F,Beria G,De Ferrari G M,Stramba-Badiale M,Locati E H,Lotto A,Schwartz P J.Unsuspected echocardiographic abnormality in the long QT syndrome. Diagnostic, prognostic, and pathogenetic implications.[J].Circulation,1991(4).
0
Views
35
下载量
0
CSCD
Publicity Resources
Related Articles
Related Author
Related Institution
京公网安备11010802024621