Παναγιώτης Ιωαννίδης. Διευθυντής Τμήματος Αρρυθμιών & Επεμβατικής Ηλεκτροφυσιολογίας Βιοκλινικής Αθηνών
|
|
- Josephine Craig
- 6 years ago
- Views:
Transcription
1 Διαστρωμάτωση κινδύνου για αιφνίδιο καρδιακό θάνατο σε ασθενείς που δεν συμπεριλαμβάνονται σε μεγάλες κλινικές μελέτες «Ασθενείς με ηλεκτρικά νοσήματα» Παναγιώτης Ιωαννίδης Διευθυντής Τμήματος Αρρυθμιών & Επεμβατικής Ηλεκτροφυσιολογίας Βιοκλινικής Αθηνών 36ο Πανελλήνιο Καρδιολογικό Συνέδριο Θεσσαλονίκη,
2 Agenda Long QT Syndrome Short QT Syndrome Catecholaminergic polymorphic ventricular tachycardia (CPVT) Brugada Syndrome Early Repolarization Syndrome Disorders responsible for 10% 15% of cases of sudden unexplained death in young adults and children1 1 Deo et al. Circulation. 2012;125:
3 Long QT Syndrome (LQTS) Prolonged Repolarization Prolonged QT Torsades de pointes
4 QT Interval: What Is Normal? The QT interval should be measured preferentially in leads II or V5 Cowan et al. Am J Cardiol. 1988;61:83-7 Bazett s formula: QTc=QT/ RR (expressed in seconds) Bazett H. Heart. 1920;7: Although a QTc interval of 440 ms in males and 460 ms in females is considered abnormal, one can find carriers of mutations as well as healthy individuals within this range
5 LQTS: Diagnostic Score Schwartz et al. Circulation 1993;88: Schwartz et al. Circulation 2011;124:
6 Diagnosis of Long QT Syndrome 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
7 LQTS patients may have QTc values within normal limits Serial ECG testing or acquisition of previous ECGs Holter monitoring Priori ESC Congress London 2015
8 Long QT syndrome by genetic subtype LQTS subtype LQT1 LQT2 Culprit gene KCNQ1 KCNH2 Protein Functional effect of mutation Alpha-subunit of IKs Loss-of-function, reduced IKs Alpha-subunit of IKr Loss-of-function, reduced IKr LQT3 SCN5A Alpha-subunit of INa 5 10 LQT4 ANK2 LQT5 KCNE1 Ankyrin-B; links membrane proteins with underlying cytoskeleton Beta-subunit of IKs Gain-of-function, increased late INainward current Loss-of-function, disrupts multiple ion channels Loss-of-function, reduced IKs <1 LQT6 KCNE2 Beta-subunit of IKr Loss-of-function, reduced IKr <1 LQT7 KCNJ2 Alpha-subunit of IKl Loss-of-function, reduced IK1 <1 LQT8 CACNA1c Alpha-subunit of ICaL Gain-of-function, increased ICaL Rare LQT9 CAV34 LQT10 SCN4B LQT11 AKAP9 LQT12 SNTA1 LQT13 KCNJ5 Kir 3.4 Loss-of-function, reduced IKACh Rare LQT14 LQT15 CALM1 CALM2 Calmodulin-1 Altered calcium signaling Calmodulin-2 Altered calcium signaling <1 <1 Caveolin-3; a scaffolding protein in Increased late INa inward current caveolae Beta 4-subunit of INa Gain-of-function, increased late INainward current A kinase-anchor protein-9; Loss-of-function, reduced IKs sympathetic IKs activation Alpha1-syntrophin; regulation of INa Increased late INa inward current Frequency (%) <1 <1 Rare Rare Rare
9 Long QT syndrome by genetic subtype LQTS subtype LQT1 LQT2 Culprit gene KCNQ1 KCNH2 Protein Functional effect of mutation Alpha-subunit of IKs Loss-of-function, reduced IKs Alpha-subunit of IKr Loss-of-function, reduced IKr LQT3 SCN5A Alpha-subunit of INa 5 10 LQT4 ANK2 LQT5 KCNE1 Ankyrin-B; links membrane proteins with underlying cytoskeleton Beta-subunit of IKs Gain-of-function, increased late INainward current Loss-of-function, disrupts multiple ion channels Loss-of-function, reduced IKs <1 LQT6 KCNE2 Beta-subunit of IKr Loss-of-function, reduced IKr <1 LQT7 KCNJ2 Alpha-subunit of IKl Loss-of-function, reduced IK1 <1 LQT8 CACNA1c Alpha-subunit of ICaL Gain-of-function, increased ICaL Rare LQT9 CAV34 LQT10 SCN4B LQT11 AKAP9 LQT12 SNTA1 LQT13 KCNJ5 Kir 3.4 Loss-of-function, reduced IKACh Rare LQT14 LQT15 CALM1 CALM2 Calmodulin-1 Altered calcium signaling Calmodulin-2 Altered calcium signaling <1 <1 Caveolin-3; a scaffolding protein in Increased late INa inward current caveolae Beta 4-subunit of INa Gain-of-function, increased late INainward current A kinase-anchor protein-9; Loss-of-function, reduced IKs sympathetic IKs activation Alpha1-syntrophin; regulation of INa Increased late INa inward current Frequency (%) <1 <1 Rare Rare Rare
10 Genotype-phenotype correlation in the most frequent Long QT syndromes LQTS subtype LQT1 LQT2 LQT3 Current I I I Ks Kr Na Functional Effect Frequency Among LQTS 30%-35% 25%-30% 5%-10% ECG Triggers Lethal Cardiac Event Phenotype Penetrance Exercise (68%) Emotional Stress (14%) Sleep, Repose (9%) Others (19%) 62% Exercise (29%) Emotional Stress (49%) Sleep, Repose (22%) Exercise (4%) Emotional Stress (12%) Sleep, Repose (64%) Others (20%) 75% 90%
11 controls concealed LQT1 concealed LQT2 Nearly 40% of patients with long QT syndrome can have a nondiagnostic QTc at rest Horner et al. Heart Rhythm 2011;8:
12 Event-free survival according to QTc 1st quartile QTc 446 ms 2nd quartile QTc: ms 3rd quartile QTc: ms The difference among the 4th quartile QTc >498 ms quartiles was significant (P<0.001). Priori et al. N Engl J Med 2003;348:
13 Survival according to genotype Priori et al. N Engl J Med 2003;348:
14 Gender and risk stratification in LQT1 Gender effect in LQT1 Asymptomatic LQT1 male patients who have remained asymptomatic until age 15 have a lower probability of experiencing a first cardiac event. Locati et al. Circulation 1998;97:
15 Specific mutation positions herald greater risk LQT1: KCNQ1 C-loop regions Barsheshet et al. Circulation 2012;125:
16 Specific mutation positions herald greater risk LQT2: KCNH2 PORE region Males vs Females Males: Pore vs Non-pore Females: Pore vs Non-pore Migdalovich et al. Heart Rhythm 2011;8:
17 LQTS Management: beta-blockers Moss et al. Circulation 2000;101:
18 Emerging therapies for LQTS: Sodium channel blockers for LQT3 Before Mexiletine After Mexiletine 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
19 Cardiac Events in genotyped LQTS Patients Treated With β-blockers Priori et al. JAMA 2004;292:
20 LQTS: Implantable Cardioverter Defibrillator 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
21 Lifestyle modifications in Long QT Syndrome (class I): May they be the only approach in asymptomatic LQTS? Avoidance of QT prolonging drugs: Correction of electrolyte abnormalities: Avoidance of genotypespecific triggers for arrhythmias:
22 Short QT Syndrome A rare condition Male preponderance (75%) Median age of symptom onset 21 years PQ segment depression is frequently seen in SQTS Tülümen et al. Heart Rhythm 2014;11:
23 Short QT Syndrome: Diagnosis 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
24 Short QT syndrome by genetic subtype
25 Diagnostic Scoring System for Short QT Syndrome High-probability SQTS 4 points Intermediate-probability SQTS= 3 points Low-probability SQTS, 2 points *A minimum of 1 point must be obtained in the electrocardiographic section in order to obtain additional points Gollob et al. JACC 2011;57: Villafane et al. JACC 2013;61:
26 Short QT Syndrome: Management 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29 SQTS is HIGHLY LETHAL Patients who survived a cardiac arrest (n=14) had a significantly higher risk of recurrences as compared to asymptomatic (n=14) (Hazard Ratio: 37.5) Mazzanti et al. JACC 2014;63:
27 Short QT syndrome: Pharmacological Therapy? Basal Quinidine 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29 Gaita et al. J Am Coll Cardiol. 2004;43:
28 SQTS: Risk Stratification? 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29 EPS sensitivity was only 37%, and its negative predictive value was 58%. Giustetto et al. 2011;58:587-95
29 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) CPVT by genetic subtype
30 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Arrhythmic manifestations PVCs, Bidirectional VT Onset of VAs with physical exercise, emotional stress, or catecholamine administration, in the absence of structural heart disease Symptoms typically begin in childhood or adolescence, but there are cases with onset in adulthood Syncope during exercise is typically the presenting symptom Untreated, this condition has very high mortality, with reports of up to 50% by the age of 30 years TdP
31 Management of CPVT: β-blockers in all patients!!! Prefer beta-blockers without intrinsic sympathomimetic activity (nadolol, propranolol). Full dose (e.g. nadolol 1-2 mg/kg per day) Recommend strict compliance to therapy 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
32 Emerging therapies for CPVT: Sodium channel blockers 29 patients: 22/29 (76%) had arrhythmias suppression in comparison with conventional therapy. During 20 months of follow-up, only 1/29 patients had an ICD shock (low flecainide levels) van der Werf et al. JACC 2011;57: ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
33 Management of CPVT: ICDs ICD should be programmed with long delays before shock delivery to avoid painful shocks that might trigger further arrhythmias ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
34 Brugada Syndrome Type 1 ST-segment elevation spontaneously or after sodium channel blocking agent in at least one right precordial leads (V1 and V2) in a standard or a superior position (up to the 2nd intercostal space)
35 Brugada ECG: Deferential Diagnosis Type 1 (Coved type).. Type 2 (Saddleback).... Corrado et al. Eur Heart J 2010;31: Bayés de Luna et al. Journal of Electrocardiology 2102;45:
36 Risk Stratification in Brugada Syndrome (BrS) Eckardt et al. Circulation. 2005;111:
37 EP or not EP? Brugada et al. Circulation 2003;108: Consensus Conference. Circulation 2005;111:
38 EP or not EP? Paul et al. European Heart Journal 2007;28: ACC/AHA/ESC Guidelines for Management of Pts With VAs and the Prevention of SCD. Circulation 2006;114:e385-e484
39 Priori et al. JACC 2012;59:37-45
40 Priori et al. JACC 2012;59:37-45
41 Novel markers of risk in BrS Rollin et al. Heart Rhythm 2013;10:
42 Novel markers of risk in BrS Tokioka et al. JACC 2014;63:2131-8
43 Novel markers of risk in BrS Makimoto et al. JACC 2010;56:
44 SCN5A mutation do not predict the arrhythmic risk in Brugada syndrome Probst et al. Circulation 2010;121:
45 ICD in Brugada syndrome: Evolution over time At 10 years, rates of inappropriate shock and lead failure were 37% and 29%, respectively Sacher et al. Circulation 2013;128:
46 Is an appropriate ICD shock a surrogate of SCD?
47 Is an appropriate ICD shock a surrogate of SCD? Probably not! Delise et al. Heart Rhythm 2014;11: PRELUDE study: In 126 patients with +EPS all events occurred in patients with ICD (5 of 98 vs 0 of 28; P=0.58) while in182 patients with EPS major events occurred in 20% (8 of 39) of the patients with ICD and only in 0.6% (1 of 143) of those with out an ICD (P=0.0001) Priori et al JACC 2012;59:37-45
48 BrS: Implantable Cardioverter Defibrillator The only treatment able to reduce the risk of SCD in Brugada syndrome is the ICD Who does need it? 2015 ESC Guidelines for management of pts with VAs & prevention of SCD. Europace 2015 Aug 29
49 Early Repolarization Malignant Benign
50 Early Repolarization Syndrome Malignant
51 Haïssaguerre et al NEJM 2008;358:
52 10,864 pts!!! ECGs & Data from to 2007!!! Tikkanen et al Circulation 2011;123:
53 Acute Ischemia and Early Repolarization Acute Ischemia Repolarization dispersion Action potential duration Action Potentials Naruse et al. Circ AE 2012;5: Endo Rudic et al. Heart Rhythm 2012;9: Epi ECG Patel et al. Am J Cardiol 2012;110: Presence of early repolarization on admission electrocardiography is associated with long-term mortality and MACE in patients with STEMI undergoing primary percutaneous intervention Ozcan KS, Güngör B, Tatlısu MA, Osmonov D, Ekmekc i A, Calık AN, Aru garslan E, Zengin A, Bolca O, Eren M, Erdinler I. Ozcan et al. J Cardiol 2014;64:164 70
54 Some thoughts The first step in risk stratification is diagnosis Asymptomatic patients with electrical diseases are in low risk, but are the majority of the cases Every patient is asymptomatic.until he/she experiences the first event (which may be a cardiac arrest!). Decision on required therapy should be made with the patient discussing the individual risk profile
55 Ευχαριστώ για την προσοχή σας!
ΤΙ ΠΡΕΠΕΙ ΝΑ ΓΝΩΡΙΖΕΙ ΟΓΕΝΙΚΟΣ ΚΑΡΔΙΟΛΟΓΟΣ ΓΙΑ ΤΙΣ ΔΙΑΥΛΟΠΑΘΕΙΕΣ
ΤΙ ΠΡΕΠΕΙ ΝΑ ΓΝΩΡΙΖΕΙ ΟΓΕΝΙΚΟΣ ΚΑΡΔΙΟΛΟΓΟΣ ΓΙΑ ΤΙΣ ΔΙΑΥΛΟΠΑΘΕΙΕΣ ΣΤΕΛΙΟΣ ΠΑΡΑΣΚΕΥΑÏΔΗΣ ΔΙΕΥΘΥΝΤΗΣ ΕΣΥ Α Καρδιολογική Κλινική ΑΠΘ, Νοσοκομείο ΑΧΕΠΑ, Θεσσαλονίκη NO CONFLICT OF INTEREST Sudden Cardiac Death
More informationPearls of the ESC/ERS Guidelines 2015 Channelopathies
Pearls of the ESC/ERS Guidelines 2015 Channelopathies Carina Blomstrom Lundqvist Dept Cardiology, Uppsala, Sweden Content 2015 ESC Guidelines for the Management of Patients with Ventricular Arrhythmias
More informationProlonged QT Syndromes: Congenital and Acquired
Prolonged QT Syndromes: Congenital and Acquired April 30, 2014 Elizabeth S. Kaufman, MD I have no financial disclosures. MetroHealth Campus, Case Western Reserve University Prolonged QT Syndromes Congenital
More informationThe Role of Defibrillator Therapy in Genetic Arrhythmia Syndromes
The Role of Defibrillator Therapy in Genetic Arrhythmia Syndromes RHEA C. PIMENTEL, MD, FACC, FHRS UNIVERSITY OF KANSAS HOSPITAL MID AMERICA CARDIOLOGY AUGUST 19, 2012 Monogenic Arrhythmia Syndromes Mendelian
More informationName of Presenter: Marwan Refaat, MD
NAAMA s 24 th International Medical Convention Medicine in the Next Decade: Challenges and Opportunities Beirut, Lebanon June 26 July 2, 2010 I have no actual or potential conflict of interest in relation
More informationSyncope in patients with inherited arrhythmogenic syndromes. Is it enough to justify ICD implantation?
Innovations in Interventional Cardiology and Electrophysiology Thessaloniki 2014 Syncope in patients with inherited arrhythmogenic syndromes. Is it enough to justify ICD implantation? K. Letsas, MD, FESC
More informationBasics of Structure/Function of Sodium and Potassium Channels Barry London, MD PhD
Basics of Structure/Function of Sodium and Potassium Channels Barry London, MD PhD University of Pittsburgh Medical Center Pittsburgh, PA International Symposium of Inherited Arrhythmia Disorders and Hypertrophic
More informationΔιαχείρηση Ασυμπτωματικού ασθενούς με ΗΚΓ τύπου Brugada
Διαχείρηση Ασυμπτωματικού ασθενούς με ΗΚΓ τύπου Brugada Άννα Κωστοπούλου Επιμελήτρια Α Ωνάσειο Καρδιοχειρουργικό Κέντρο Τμήμα Ηλεκτροφυσιολογίας και Βηματοδότησης BrS: Diagnosis 5:10000 First described
More informationGenetics of Sudden Cardiac Death. Geoffrey Pitt Ion Channel Research Unit Duke University. Disclosures: Grant funding from Medtronic.
Genetics of Sudden Cardiac Death Geoffrey Pitt Ion Channel Research Unit Duke University Disclosures: Grant funding from Medtronic Duke U N I V E R S I T Y Sudden Cardiac Death High incidence 50-100 per
More informationICD in a young patient with syncope
ICD in a young patient with syncope Konstantinos P. Letsas, MD, FESC Second Department of Cardiology Evangelismos General Hospital of Athens Athens, Greece Case presentation A 17-year-old apparently healthy
More informationWINDLAND SMITH RICE SUDDEN DEATH GENOMICS LABORATORY
Learning Objectives to Disclose: To CRITIQUE the ICD and its role in the treatment of BrS, CPVT, and LQTS WINDLAND SMITH RICE SUDDEN DEATH GENOMICS LABORATORY Conflicts of Interest to Disclose: Consultant
More informationInvasive Risk Stratification: When is it needed?
Inherited Cardiomyopathies and Channelopathies: Who is at risk for Sudden Cardiac Death? Invasive Risk Stratification: When is it needed? Hung-Fat Tse, MD, PhD Department of Medicine The University of
More informationWhen VF is the endpoint, wait and see is not always the best option.
Being free of symptoms does not necessarily mean free of arrhythmias. This Holter is from a asymptomatic 48 years old female with LQT2 When VF is the endpoint, wait and see is not always the best option.
More informationGenetic Testing for Cardiac Ion Channelopathies
Genetic Testing for Cardiac Ion Channelopathies Policy Number: 2.04.43 Last Review: 11/2018 Origination: 6/2007 Next Review: 11/2019 Policy Blue Cross and Blue Shield of Kansas City (Blue KC) will provide
More informationHow to manage a patient with short QT syndrome?
How to manage a patient with short QT syndrome? Torino, 27 ottobre2012 Carla Giustetto Division of Cardiology University of Torino QT 280 ms QTc 260 ms Narrow, tall and peaked T waves High incidence of
More informationMedical Policy An Independent Licensee of the Blue Cross and Blue Shield Association
Genetic Testing for Page 1 of 23 Medical Policy An Independent Licensee of the Blue Cross and Blue Shield Association Title: Genetic Testing for Professional Institutional Original Effective Date: August
More informationExercise guidelines in athletes with isolated repolarisation abnormalities and structurally normal heart.
Exercise guidelines in athletes with isolated repolarisation abnormalities and structurally normal heart. Hanne Rasmusen Consultant cardiologist, PhD Dept. of Cardiology Bispebjerg University Hospital
More informationSilvia G Priori MD PhD
The approach to the cardiac arrest survivor Silvia G Priori MD PhD Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri Pavia, Italy AND Leon Charney Division of Cardiology, Cardiovascular Genetics
More informationGenetic Testing for Cardiac Ion Channelopathies
Applies to all products administered or underwritten by Blue Cross and Blue Shield of Louisiana and its subsidiary, HMO Louisiana, Inc.(collectively referred to as the Company ), unless otherwise provided
More informationPreventing Sudden Death in Young Athletes. Outline. Scope of the Problem. Causes of SCD in Young Athletes. Sudden death in the young athlete
Preventing Sudden Death in Young Athletes Ronn E. Tanel, MD Director, Pediatric Arrhythmia Service UCSF Children s Hospital Associate Professor of Pediatrics UCSF School of Medicine Outline Sudden death
More informationSection: Effective Date: Subsection: Original Policy Date: Subject: Page: Last Review Status/Date: Background
Genetic Testing for Cardiac Ion Last Review Status/Date: March 2014 Genetic Testing for Cardiac Ion Description Page: 1 of 22 Genetic testing is available for patients suspected of having cardiac ion channelopathies
More informationCase studies in Channelopathies
Case studies in Channelopathies FABRICE CHOUTY, MD MEDICAL DIRECTOR HANNOVER-LIFE RE, PARIS (F) INTRODUCTION Thanks to the invasive electrophysiology and the progress of imaging techniques as well as the
More informationLong Q. Long QT Syndrome. A Guide for
Long Q Long QT Syndrome A Guide for Introduction Long QT syndrome (LQTS) is a genetic heart disorder due to the malfunction of cardiac ion channels that results in 4,000 deaths annually in the United States
More informationDrugs Controlling Myocyte Excitability and Conduction at the AV node Singh and Vaughan-Williams Classification
Drugs Controlling Myocyte Excitability and Conduction at the AV node Singh and Vaughan-Williams Classification Class I Na Channel Blockers Flecainide Propafenone Class III K channel Blockers Dofetilide,
More informationFANS Paediatric Pathway for Inherited Arrhythmias*
FANS Paediatric Pathway for Inherited Arrhythmias* The pathway is based on the HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes
More informationAsymptomatic Long QT. Prof. Dr. Martin Borggrefe Mannheim
Asymptomatic Long QT Prof. Dr. Martin Borggrefe Mannheim QT interval Distribution of QTc intervals in large population-based studies Viskin S, Heart Rhythm 2009; 6: 711-715 QT interval Distribution of
More informationRipolarizzazione precoce. Torino, 24th October Non così innocente come si pensava
Asymptomatic inherited arrhythmia syndromes: Drug induced Brugada Syndrome: when a prophylactic ICD is indicated? how high (or low) is QT the risk? Asymptomatic short Ripolarizzazione precoce. Torino,
More informationMedical Policy An independent licensee of the Blue Cross Blue Shield Association
Genetic Testing for Page 1 of 29 Medical Policy An independent licensee of the Blue Cross Blue Shield Association Title: Genetic Testing for Professional Institutional Original Effective Date: August 12,
More informationTailored therapy in long QT syndrome
Tailored therapy in long QT syndrome Dominic Abrams St. Bartholomew s & Great Ormond Street Hospitals London, UK Disclosures None Tailored therapy in long QTS Which patients should have tailored therapy...?...
More informationDescription. Page: 1 of 31. Genetic Testing for Cardiac Ion Channelopathies. Last Review Status/Date: December 2015
Genetic Testing for Cardiac Ion Last Review Status/Date: December 2015 Genetic Testing for Cardiac Ion Description Page: 1 of 31 Genetic testing is available for patients suspected of having cardiac ion
More informationIN THE NAME OF GOD. Dr.Sima Sayah
IN THE NAME OF GOD Dr.Sima Sayah Epidemiology: Prevalence: ranging from 0.14% in the japanese to 0.61% in europeans & may reach to 3% in southeast Asia. In up to 60% of patients,the disease can be sporadic.
More informationStrength and weakness of genetic testing in clinical routine.
Strength and weakness of genetic testing in clinical routine. Silvia G Priori MD PhD Molecular Cardiology, IRCCS Fondazione Maugeri Pavia, Italy AND Leon Charney Division of Cardiology, Cardiovascular
More informationCorporate Medical Policy
Corporate Medical Policy Genetic Testing for Cardiac Ion Channelopathies File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_cardiac_ion_channelopathies 10/2008 4/2018
More informationCONGENITAL LONG QT SYNDROME(CLQTS) ASSOCIATED WITH COMPLETE ATRIOVENTRICULAR BLOCK. A CASE REPORT.
CONGENITAL LONG QT SYNDROME(CLQTS) ASSOCIATED WITH COMPLETE ATRIOVENTRICULAR BLOCK. A CASE REPORT. SAHA Annual Congress 2017. Samkelo Jiyana, Adele Greyling, Andile Nxele, ZM,Makrexeni,L.Pepeta. BACKGROUND
More informationJ Wave Syndromes. Osama Diab Lecturer of Cardiology Ain Shams University
J Wave Syndromes Osama Diab Lecturer of Cardiology Ain Shams University J Wave Syndromes Group of electric disorders characterized by > 1 mm elevation of the J point or prominent J wave with or without
More informationGenetic Testing for Cardiac Ion Channelopathies. Description
Genetic Testing for Cardiac Ion Page: 1 of 30 Last Review Status/Date: March 2017 Genetic Testing for Cardiac Ion Description Genetic testing is available for patients suspected of having cardiac ion channelopathies
More informationGenetic testing in Cardiomyopathies
Genetic testing in Cardiomyopathies Silvia Giuliana Priori Cardiovascular Genetics, Langone Medical Center, New York University School of Medicine, New York, USA and Molecular Cardiology, IRCCS Fondazione
More informationRipolarizzazione precoce.
Controversia: impianto di defibrillatore in prevenzione primaria Caso clinico: Ripolarizzazione precoce. Sindrome di Brugada Non così innocente come si pensava Torino, 31 marzo 2017 Carla Giustetto Carla
More informationΕμφύτευση απινιδωτών για πρωτογενή πρόληψη σε ασθενείς που δεν περιλαμβάνονται στις κλινικές μελέτες
Εμφύτευση απινιδωτών για πρωτογενή πρόληψη σε ασθενείς που δεν περιλαμβάνονται στις κλινικές μελέτες Δημήτριος M. Κωνσταντίνου Ειδικός Καρδιολόγος, MD, MSc, PhD, CCDS Πανεπιστημιακός Υπότροφος Dr. Konstantinou
More informationGenetic Testing for Congenital Long QT Syndrome
Genetic Testing for Congenital Long QT Syndrome Policy Number: 2.04.43 Last Review: 11/2013 Origination: 6/2007 Next Review: 11/2014 Policy Blue Cross and Blue Shield of Kansas City (Blue KC) will provide
More informationWojciech Szczepański, MD, PhD Department of Pediatrics, Endocrinology, Diabetology with Cardiology Division Medical University of Bialystok
Channelopathies: - Long QT syndrome - Short QT syndrome - Brugada syndrome - Early repolarization syndrome - Catecholaminergic polymorphic ventricular tachycardia Wojciech Szczepański, MD, PhD Department
More informationAtrial fibrillation in Cardiac Channelopathies
Atrial fibrillation in Cardiac Channelopathies Thejus, Jayachandran Francis, Johnson Introduction Atrial fibrillation is the commonest arrhythmia encountered in day-to-day clinical practice. Its prevalence
More informationCongenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene
CASE REPORT Cardiology Journal 2013, Vol. 20, No. 1, pp. 78 82 10.5603/CJ.2013.0012 Copyright 2013 Via Medica ISSN 1897 5593 Congenital long QT syndrome of particularly malignant course connected with
More informationProfessor Eric Schulze-Bahr
No CoI. Professor Eric Schulze-Bahr Institute for Genetics of Heart Diseases Department of Cardiology and Angiology University Hospital Münster / Germany ICD therapy in asymptomatic or borderline LQTS
More informationProtocol. Genetic Testing for Cardiac Ion Channelopathies
Protocol Genetic Testing for Cardiac Ion Channelopathies (20443) Medical Benefit Effective Date: 04/0/8 Next Review Date: /8 Preauthorization Yes Review Dates: 05/09, 05/0, 03/, 03/2, 03/3, 03/4, 03/5,
More informationStage I: Binning Dashboard
Stage I: Binning Dashboard P[ GENE/GENE PANEL: KCNQ1, KCNH2, SCN5A DISORDER: Romano-Ward Long QT Syndrome HGNC ID: 6294, 6251, 10593 OMIM ID: 192500, 613688, 603830 ACTIONABILITY PENETRANCE 1. Is there
More informationCHANNELOPATHIES IS GENETIC TESTING ESSENTIAL IN PTS MANAGEMENT
CHANNELOPATHIES IS GENETIC TESTING ESSENTIAL IN PTS MANAGEMENT Inherited and Rare Cardiac Diseases Unit Heart Center for the Young and Athletes ONASSIS CARDIAC SURGERY CENTRE DIAGNOSIS ION CHANNEL DISEASE
More informationRhythm and Blues Drugs and QT Prolongation
Rhythm and Blues Drugs and QT Prolongation Dr Martin Quinn St Vincents University Hospital Irish Medication Safety Network conference Farmleigh 18 Oct 2013 Drugs and QT Prolongation Anti-psychotic, antidepressant,
More informationCase Demonstrations in Congenital and Acquired Long QT Syndrome
Case Demonstrations in Congenital and Acquired Long QT Syndrome Can You Make A Correct ECG Interpretation? Li Zhang, MD; 1-2 G. Michael Vincent, MD 1 1. LQTS Studies, Department t of Medicine i LDS Hospital,
More informationAre there low risk patients in Brugada syndrome?
Are there low risk patients in Brugada syndrome? Pedro Brugada MD, PhD Andrea Sarkozy MD Risk stratification in Brugada syndrome In the last years risk stratification in Brugada syndrome has become the
More informationLong QT. Long QT Syndrome. A Guide for Patients
Long QT Long QT Syndrome A Guide for Patients Long QT Syndrome What is long QT syndrome? Long QT syndrome (LQTS) is a condition that affects the ability of the heart to beat (contract) regularly and efficiently.
More informationThe impact of clinical and genetic findings on the management of young Brugada Syndrome patients
12 ème Congrès Médico-Chirugical de la FCPC 21 au 24 novembre 2015 Schoelcher, Martinique The impact of clinical and genetic findings on the management of young Brugada Syndrome patients Institut du Thorax,
More informationWhat is New in CPVT? Diagnosis Genetics Arrhythmia Mechanism Treatment. Andreas Pflaumer
What is New in CPVT? Diagnosis Genetics Arrhythmia Mechanism Treatment Andreas Pflaumer Diagnosis of CPVT Induction of different types of VES or VT by exercise or catecholamines AND exclusion of of other
More informationLeft cardiac sympathectomy to manage beta-blocker resistant LQT patients
Left cardiac sympathectomy to manage beta-blocker resistant LQT patients Lexin Wang, M.D., Ph.D. Introduction Congenital long QT syndrome (LQTS) is a disorder of prolonged cardiac repolarization, manifested
More informationCME Article Brugada pattern masking anterior myocardial infarction
Electrocardiography Series Singapore Med J 2011; 52(9) : 647 CME Article Brugada pattern masking anterior myocardial infarction Seow S C, Omar A R, Hong E C T Cardiology Department, National University
More informationFANS Long QT Syndrome Investigation Protocol (including suspected mutation carriers)
Clinical Features FANS Long QT Syndrome Investigation Protocol (including suspected mutation carriers) History Syncope or presyncope compatible with ventricular tachyarrhythmia, especially relating to
More informationBrugada Syndrome: An Update
Brugada Syndrome: An Update Osama Diab Associate professor of Cardiology Ain Shams university, Cairo, Egypt Updates Mechanism and Genetics Risk stratification Treatment 1 Brugada syndrome causes 4 12%
More informationRipolarizzazione precoce. Non così innocente come si pensava
Brugada syndrome: tests and diagnosis. Torino, 27 ottobre 2017 Ripolarizzazione precoce. Non così innocente come si pensava Carla Giustetto Carla Giustetto Divisione di Cardiologia Divisione Università
More informationPatient Resources: Cardiac Channelopathies
Patient Resources: Cardiac Channelopathies Overview of Cardiac Channelopathies: CPVT, Long QT Syndrome and Brugada Syndrome Heart muscle cells contract because of movement of certain molecules (called
More informationLong QT Syndrome in Children in the Era of Implantable Defibrillators
Journal of the American College of Cardiology Vol. 50, No. 14, 2007 2007 by the American College of Cardiology Foundation ISSN 0735-1097/07/$32.00 Published by Elsevier Inc. doi:10.1016/j.jacc.2007.05.042
More informationActive Cascade Screening in Primary Inherited Arrhythmia Syndromes
Journal of the American College of Cardiology Vol. 55, No. 23, 2010 2010 by the American College of Cardiology Foundation ISSN 0735-1097/$36.00 Published by Elsevier Inc. doi:10.1016/j.jacc.2009.12.063
More informationUpdate of Diagnosis and Management of Inherited Cardiac Arrhythmias
Circulation Journal Official Journal of the Japanese Circulation Society http://www.j-circ.or.jp REVIEW Update of Diagnosis and Management of Inherited Cardiac Arrhythmias Wataru Shimizu, MD, PhD Over
More informationRipolarizzazione precoce. Non così innocente come si pensava
La sincope nel paziente con ECG Brugada-like Stresa, 9 giugno 2017 Ripolarizzazione precoce. Non così innocente come si pensava Carla Giustetto Carla Giustetto Divisione di Cardiologia Divisione Università
More informationARVC when TO IMPLANT THE ASYMPTOMATIC PERSON
EUROPACE 2011 INHERITED ELECTRICAL CARDIAC DISORDERS ARVC when TO IMPLANT THE ASYMPTOMATIC PERSON June 26 th 2011 Robert Lemery MD CONFLICTS of INTEREST None ASYMPTOMATIC ARVC 1. ECG 2. ASYMPTOMATIC PVC
More informationSynopsis of Management on Ventricular arrhythmias. M. Soni MD Interventional Cardiologist
Synopsis of Management on Ventricular arrhythmias M. Soni MD Interventional Cardiologist No financial disclosure Premature Ventricular Contraction (PVC) Ventricular Bigeminy Ventricular Trigeminy Multifocal
More informationPrimary Therapy for High Risk LQT Patients Should Be an ICD
Primary Therapy for High Risk LQT Patients Should Be an ICD Raul Weiss MD, FAHA, FACC, FHRS, CCDS Director, Electrophysiology Fellowship Program Associate Professor of Medicine The Ohio State University
More informationHow agressively should we treat asymptomatic patients with Brugada syndrome. Josep Brugada Medical Director Hospital Clínic, University of Barcelona
How agressively should we treat asymptomatic patients with Brugada syndrome Josep Brugada Medical Director Hospital Clínic, University of Barcelona The ECG in Brugada syndrome - Prolonged PR - RBBB - ST
More informationThe Early Repolarization ECG Pattern An Update
Acta Medica Marisiensis 2017;63(4):165-169 DOI: 10.1515/amma-2017-0032 REVIEW The Early Repolarization ECG Pattern An Update István Adorján Szabó 1, Annamária Fárr 2, Ildikó Kocsis 1, Lehel Máthé 3, László
More informationHereditary Conditions Predisposing to Sudden Death
Hereditary Conditions Predisposing to Sudden Death Barry London, MD PhD University of Pittsburgh Medical Center Pittsburgh, PA SCAA/HRS/UPMC Symposium Managing the Patient at Risk for Sudden Death 10/08/10
More informationArrhythmias (II) Ventricular Arrhythmias. Disclosures
Arrhythmias (II) Ventricular Arrhythmias Amy Leigh Miller, MD, PhD Cardiovascular Electrophysiology, Brigham & Women s Hospital Disclosures None Rhythms and Mortality Implantable loop recorder post-mi
More informationRisk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals
Journal of the American College of Cardiology Vol. 57, No. 1, 2011 2011 by the American College of Cardiology Foundation ISSN 0735-1097/$36.00 Published by Elsevier Inc. doi:10.1016/j.jacc.2010.07.038
More informationSilvia G Priori MD PhD
Novel therapies for the long QT syndrome. Silvia G Priori MD PhD Molecular Cardiology, IRCCS Fondazione Salvatore Maugeri Pavia, Italy and Leon Charney Division of Cardiology, Cardiovascular Genetics Program,
More informationMedical Policy. Description/Scope. Rationale
Subject: Document #: Current Effective Date: 03/29/2017 Status: Reviewed Last Review Date: 02/02/2017 Description/Scope This document addresses genetic testing of cardiac ion channel mutations in persons
More informationΕνδείξεισ εμφύτευςησ απινιδωτή ςτην «γκρίζα ζώνη» Γεώργιοσ Ανδρικόπουλοσ, MD, PhD, Αν. Δ/ντήσ Καρδιολογικήσ Κλινικήσ ΓΝΑ «Ερρίκοσ Ντυνάν»
Ενδείξεισ εμφύτευςησ απινιδωτή ςτην «γκρίζα ζώνη» Γεώργιοσ Ανδρικόπουλοσ, MD, PhD, Αν. Δ/ντήσ Καρδιολογικήσ Κλινικήσ ΓΝΑ «Ερρίκοσ Ντυνάν» Major Implantable Cardioverter-Defibrillator Trials for Prevention
More informationIndex. cardiology.theclinics.com. Note: Page numbers of article titles are in boldface type.
Index Note: Page numbers of article titles are in boldface type. A Adenosine in idiopathic AV block, 445 446 Adolescent(s) syncope in, 397 409. See also Syncope, in children and adolescents AECG monitoring.
More informationIs There a Genomic Basis to Acquired Channelopathic disease
Is There a Genomic Basis to Acquired Channelopathic disease Yaniv Bar-Cohen, M.D. Associate Professor of Pediatrics Division of Cardiology / Electrophysiology Children s Hospital Los Angeles Keck School
More information2017 AHA/ACC/HRS Ventricular Arrhythmias and Sudden Cardiac Death Guideline. Top Ten Messages. Eleftherios M Kallergis, MD, PhD, FESC
2017 AHA/ACC/HRS Ventricular Arrhythmias and Sudden Cardiac Death Guideline Top Ten Messages Eleftherios M Kallergis, MD, PhD, FESC Cadiology Department - Heraklion University Hospital No actual or potential
More informationV4, V5 and V6 follow the 5 th intercostal space and are NOT horizontal as indicated in the image. Page 1 of 7
V4, V5 and V6 follow the 5 th intercostal space and are NOT horizontal as indicated in the image. Page 1 of 7 "Is it correct to place the electrodes under the female breasts?" Placement of electrodes directly
More informationShort QT Syndrome: Pharmacological Treatment
Journal of the American College of Cardiology Vol. 43, No. 8, 2004 2004 by the American College of Cardiology Foundation ISSN 0735-1097/04/$30.00 Published by Elsevier Inc. doi:10.1016/j.jacc.2004.02.034
More informationLow Prevalence of Risk Markers in Cases of Sudden Death Due to Brugada Syndrome
Journal of the American College of Cardiology Vol. 57, No. 23, 2011 2011 by the American College of Cardiology Foundation ISSN 0735-1097/$36.00 Published by Elsevier Inc. doi:10.1016/j.jacc.2010.11.067
More informationPattarapong Makarawate MD, FHRS Assistant Professor. Division Of Cardiology Faculty of Medicine, Khon Kaen University
Pattarapong Makarawate MD, FHRS Assistant Professor. Division Of Cardiology Faculty of Medicine, Khon Kaen University 1. Important and impact of ICD in primary prevention 2. Risk stratification for ICD
More informationAsaad Khoury 2,3 MD, Monther Boulos 1,3 MD, Mahmoud Suleiman 1,3 MD, Miry Blich 1,3 MD, Michael Eldar 4 MD, Ibrahim Marai 1,3 MD,
Flecainide therapy suppresses exercise induced ventricular arrhythmias in patients with CASQ2 associated catecholaminergic polymorphic ventricular tachycardia Asaad Khoury 2,3 MD, Monther Boulos 1,3 MD,
More informationClinical Policy Title: Genetic testing for long QT syndrome (LQTS)
Clinical Policy Title: Genetic testing for long QT syndrome (LQTS) Clinical Policy Number: 04.01.02 Effective Date: Dec. 1, 2013 Initial Review Date: June 19, 2013 Most Recent Review Date: July 20, 2016
More informationClinical Policy Title: Genetic testing for long QT syndrome (LQTS)
Clinical Policy Title: Genetic testing for long QT syndrome (LQTS) Clinical Policy Number: 04.01.02 Effective Date: Dec. 1, 2013 Initial Review Date: June 19, 2013 Most Recent Review Date: July 19, 2017
More informationInherited Arrhythmia Syndromes
Inherited Arrhythmia Syndromes When to perform Genetic testing? Arthur AM Wilde February 4, 2017 Which pts should undergo genetic testing? SCD victims with a likely diagnosis Pts diagnosed with an inherited
More informationShort QT syndrome: A case report and review of literature
Resuscitation (2006) 71, 115 121 CASE REPORT Short QT syndrome: A case report and review of literature Li Xiong Lu, Wei Zhou, Xingyu Zhang, Qin Cao, Kanglong Yu, Changqing Zhu Department of Emergency and
More informationRecurrent Implantable Defibrillator Discharges (ICD) Discharges ICD Storm
Recurrent Implantable Defibrillator Discharges (ICD) Discharges ICD Storm Guy Amit, MD, MPH Soroka University Medical Center Ben-Gurion University of the Negev Beer-Sheva, Israel Disclosures Consultant:
More informationTailored treatment in Brugada syndrome
Tailored treatment in Brugada syndrome Lars Eckardt Department of Cardiology and Angiology Division of Experimental and Clinical Electrophysiology University of Münster, Germany 45 yr old male preoperative
More informationSUDDEN CARDIAC DEATH(SCD): Definition
SUDDEN CARDIAC DEATH EPIDEMIOLOGY, PATHOPHYSIOLOGY, PREVENTION & THERAPY Hasan Garan, M.D. Columbia University Medical Center SUDDEN CARDIAC DEATH(SCD): Definition DEATH DUE TO A CARDIAC CAUSE IN A CLINICALLY
More informationGenetic Test for the Channelopaties: Useful or Less Than Useful for Patients? (Part II)
Genetic Test for the Channelopaties: Useful or Less Than Useful for Patients? (Part II) Romano R 1, Parisi V 2, Pastore F 3, Riccio A 4, Petraglia L 2, Allocca E 2, Leosco D 2 1 Department of Surgery and
More informationΠρόληψη του ΑΚΘ σε ασθενείς με μη-ισχαιμική μυοκαρδιοπάθεια:
Πρόληψη του ΑΚΘ σε ασθενείς με μη-ισχαιμική μυοκαρδιοπάθεια: Νεώτερα δεδομένα στη διαστρωμάτωση κινδύνου Εμμ. Μ. Κανουπάκης MD, PhD, FESC Πανεπιστημιακό Νοσοκομείο Ηρακλείου NIDCM Presence of LV dilatation
More informationSUDDEN CARDIAC DEATH(SCD): Definition
SUDDEN CARDIAC DEATH EPIDEMIOLOGY, PATHOPHYSIOLOGY, PREVENTION & THERAPY Hasan Garan, M.D. Columbia University Medical Center SUDDEN CARDIAC DEATH(SCD): Definition DEATH DUE TO A CARDIAC CAUSE IN A CLINICALLY
More informationSEMINAIRES IRIS. Sudden cardiac death in the adult. Gian Battista Chierchia. Heart Rhythm Management Center, UZ Brussel. 20% 25% Cancers !
Sudden cardiac death in the adult Gian Battista Chierchia. Heart Rhythm Management Center, UZ Brussel.! " # $ % Cancers National Vital Statistics Report, Vol 49 (11), Oct. 12, 2001. 20% 25% State-specific
More informationSudden Unexplained Death in Epilepsy (SUDEP) and Dravet Syndrome
2016 DSF Biennial Family and Professional Conference Coral Gables, FL June 23-26, 2016 Sudden Unexplained Death in Epilepsy (SUDEP) and Dravet Syndrome Ronald J. Kanter, MD Director, Cardiac Electrophysiology,
More informationCardiac Emergencies Workshop
Cardiac Emergencies Workshop Yolenda Westra MD FRCPC Grande Prairie Po Kee Cheung MBBS FRCP FRCPC FACC Co-Director,Cardiac Catheterization Laboratory, RAH Faculty/Presenter Disclosure Faculty: Dr. Yolande
More informationState of the Art: Brugada Syndrome Novel diagnostic approaches and risk stratification
State of the Art: Brugada Syndrome Novel diagnostic approaches and risk stratification Lars Eckardt Division Electrophysiology Department of Cardiovascular Medicine University of Münster, Germany I have
More informationJ Wave Syndrome: Clinical Diagnosis, Risk Stratification And Treatment Kamal K Sethi,Kabir Sethi,Surendra K Chutani
J Wave Syndrome: Clinical Diagnosis, Risk Stratification And Treatment Kamal K Sethi,Kabir Sethi,Surendra K Chutani Division of Cardiology and Cardiac Electrophysiology,Delhi Heart & Lung Institute,New
More informationQuinidine for Brugada syndrome: Panacea or poison?
Quinidine for Brugada syndrome: Panacea or poison? Jo-Jo Hai, MBBS, * Chun-Ka Wong, MBBS, * Pak-Hei Chan, MBBS, * Hung-Fat Tse, MD, PhD, * Tak-Cheung Yung, MBBS, Chung-Wah Siu, MD From the * Division of
More information