Cardiopatie Aritmogene nel Giovane
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1 Firenze, 16 Novembre 2012 Cardiopatie Aritmogene nel Giovane Prof. Luigi Padeletti Università degli Studi di Firenze
2 1) Long QT Syndrome 2) Short QT Syndrome 3) J wave Syndrome: Early Repolarization Syndrome Brugada Syndrome Curr Probl Cardiol 2012;37:
3 Long QT Syndrome Long QT syndrome (LQTS) is a hereditary repolarization disorder characterized by a prolonged QT interval on surface ECG, syncope, polymorphic VT, and increased risk of sudden cardiac arrest in individuals with no underlying structural heart disease. Curr Probl Cardiol 2012;37:
4 Come calcolare correttamente il QT Johnson JN & Ackerman NJ, Br J Sports Med 2009
5 Possibili varianti morfologiche dell onda T Goldenberg, Moss & Zareba, J Cardiovasc Electrophysiol 2006
6 Dal QT al QTc Goldenberg, Moss & Zareba, J Cardiovasc Electrophysiol 2006
7 Zareba W, Progress in Cardiovascular Diseases 2008
8 Sovrapposizione fra soggetti sani e pazienti affetti da LQTS Johnson JN & Ackerman NJ, Br J Sports Med 2009
9 Diagnosi di Long QT Syndrome Schwartz Score 1) Criteri Elettrocardiografici 2) Anamnesi personale 3) Anamnesi famigliare LQTS Probality Score 1 poin or less = low probability 2 to 3 points = intermediate probability 4 points or higher = hight probability Zareba W, Progress in Cardiovascular Diseases 2008
10 Long QT Syndrome Zareba W, Progress in Cardiovascular Diseases 2008
11 Fisiopatologia
12 Fisiopatologia Zareba W, Progress in Cardiovascular Diseases 2008
13 Forme più frequenti di LQTS Roden DM et al, NEJM 2008
14 LQT3 LQT2 LQT1 Zareba W, Progress in Cardiovascular Diseases 2008
15 Triggers Zareba W, Progress in Cardiovascular Diseases 2008
16 Stratificazione del Rischio By Gender Goldenberg et at. JACC Vol. 51, No. 24, 2008
17 Stratificazione del Rischio By QTc duration Zareba W, Progress in Cardiovascular Diseases 2008
18 Stratificazione del Rischio By Syncope Goldenberg et at. JACC Vol. 51, No. 24, 2008
19 Stratificazione del Rischio By LQTS genotypes It has been suggested that arrhythmic risk is related to the presence of specific LQTS genotypes. The lethality of cardiac events was found to be significantly higher in LQT3 than in LQT2 and LQT1 family members Goldenberg et at. JACC Vol. 51, No. 24, 2008
20 Stratificazione del Rischio Goldenberg and Moss, JACC 2008
21 Indicazioni terapeutiche Roden DM et al, NEJM 2008
22 Zareba W, Progress in Cardiovascular Diseases 2008
23 Effetto della denervazione autonomica cardiaca Zareba Progress in Cardiovascular Disease 2008
24 Genetic Testing 1) Genetic testing can identify a mutation in 50 to 75% of probands in whom the diagnosis appears to be certain on clinical grounds. 2) A negative genetic test does not rule out the diagnosis. 3) There is also the potential for false positive results, since detection of a mutation does not establish the diagnosis. 4) Genetic testing is most useful in two settings: When a clinical diagnosis is relatively certain, knowing the specific gene affected may clarify the prognosis In a family with an affected proband and a known genetic defect, the genotyping of family members can help rule out the diagnosis in some patients. However a positive test identifies a family member as being a mutation carrier, even if he or she is asymptomatic and has a normal QT interval. Roden DM et al, NEJM 2008
25 Short QT Syndrome The hereditary short QT syndrome (SQTS) is a recently described repolarization disorder associated with sudden cardiac death in individuals with no underlying structural heart disease. Curr Probl Cardiol 2012;37:
26 Short QT Syndrome Twelve-lead electrocardiogram of a patient with short QT syndrome Curr Probl Cardiol 2012;37:
27 Short QT Syndrome Point-scoring system for diagnosis of SQTS Patients are classified as 1. low probability (score 2) 2. intermediate probability (3 points) 3. high probability (4 points) of short QT syndrome. Curr Probl Cardiol 2012;37:
28 Short QT Syndrome Therapy Options 1) ICD implant. 2) Use of hydroquinidine to suppress recurrent VT/VF and also in patients deemed unsuitable for or who refuse an ICD implant. 3) Use of amiodarone in suppressing recurrent VT in a patient has been reported.there are no long-term data on the use of amiodarone in patients with SQTS. Curr Probl Cardiol 2012;37:
29 Early Repolarization Pattern The Early History J wave Antzelevitch et al. Heart Rhythm 2010
30 Early Repolarization Variants (ERPV) Boineau et al. Journal of Electrocardiology 2007
31 Early Repolarization Pattern Pathophysiology Antzelevitch et al. Heart Rhythm 2010
32 Pattern di ER a sede inferiore o laterale Haïssaguerre M et al, NEJM 2008
33 The History Antzelevitch et al. Heart Rhythm 2010
34 Variazioni temporali del punto J ed eventi aritmici Haïssaguerre M et al, NEJM 2008
35 Modalità di insorgenza di FV Relazione con la frequenza cardiaca Soppressione degli eventi di FV dopo aumento della frequenza di pacing atriale Nam GB et al, Eur Heart J 2010
36 Modalità di insorgenza di FV Relazione con la frequenza cardiaca Soppressione degli eventi di FV somministrazione di Isoproterenolo Nam GB et al, Eur Heart J 2010
37 Is the Early Repolarization Pattern a benign ECG manifestation?
38 Sudden Cardiac Arrest Associated with Early Repolarization HR 2.1 ( P=0.008) 206 pazienti rianimati dopo FV idiopatica ER inferiore/laterale 64 (31%) Haïssaguerre M et al, NEJM 2008
39 Long-Term Outcome Associated with Early Repolarization on Electrocardiography Tikkanen JT et al, NEJM 2009
40 Long-Term Outcome Associated with Early Repolarization on Electrocardiography Unadjusted RR 3.52 ( ) Unadjusted RR 3.94 ( ) Tikkanen JT et al, NEJM 2009
41 Differenti morfologie del tratto ST in pazienti con ER a sede inferiore ER con ST ascendente ER con ST orizzontale/discendente Tikkanen JT et al, Circulation 2011
42 Pattern di ER & SCD Solamente il quadro di ER a sede inferiore con ST orizzontale/discendente è risultato associato ad eventi aritmici fatali nella popolazione di soggetti (52% maschi, età media 44 ± 8.5 anni) già studiata precedentemente (NEJM 2009) Tikkanen JT et al, Circulation 2011
43 popolazione generale ER a sede inferiore Uberoi A et al, Circulation 2011
44 29281 ECGs alla VA Palo Alto Health Care System 87% maschi 55 ± 14 anni ER 2.3% F-U mediano 7.6 anni 1995 morti cardiache Uberoi A et al, Circulation 2011
45 Uberoi A et al, Circulation 2011
46 J wave Syndromes Antzelevitch et al. Heart Rhythm 2010
47 Brugada Syndrome The Early History Antzelevitch et al. Heart Rhythm 2010
48
49 Current Electrocardiographic Criteria for diagnosis of Brugada Pattern: a Consensus Report Type I Type II Bayés de Luna et al. Journal of Electrocardiology 45 (2012)
50 Current Electrocardiographic Criteria for diagnosis of Brugada Pattern: a consensus report Bayés de Luna et al. Journal of Electrocardiology 45 (2012)
51 From Brugada Pattern to Brugada Syndrome Brugada Syndrome is definitively diagnosed only if the ECG displays type 1 pattern in more than 1 precordial lead (V1-V3), either spontaneously or provoked after administration of a sodium channel blocking agent and is associated with 1 or more of the following clinical characteristics: 1. Syncope 2. Nocturnal agonal respiration 3. Inducible VT/VF with electrical stimulation 4. Family history of sudden cardiac death 45 years 5. Type 1 ECG pattern in family member 6. Spontaneous VT/VF Curr Probl Cardiol 2012;37:
52 Età di comparsa di episodi spontanei di FV/SD Benito B. et al., Progress in Cardiovasc Disease 2008
53 Pattern circadiano di FV nella Sindrome di Brugada Matsuo et al. Eur Heart J 1999
54 Management of patients with Brugada Syndrome: Results of the PRELUDE Registry Survival According to VTs/VF Inducibility Priori S et al.j Am Coll Cardiol 2012;59:37 45
55 Management of patients with Brugada Syndrome: Results of the PRELUDE Registry Survival According to History of Syncope Priori S et al.j Am Coll Cardiol 2012;59:37 45
56 Management of patients with Brugada Syndrome: Results of the PRELUDE Registry Survival According to Presence of Spontaneous type 1 ECG Priori S et al.j Am Coll Cardiol 2012;59:37 45
57 Management of patients with Brugada Syndrome: Results of the PRELUDE Registry Survival According to Presence of Ventricular Refractory < 200 ms Priori S et al.j Am Coll Cardiol 2012;59:37 45
58 Management of patients with Brugada Syndrome: Results of the PRELUDE Registry Survival According to Presence of QRS fragmentation Priori S et al.j Am Coll Cardiol 2012;59:37 45
59 CONCLUSION: Our data show that VT/VF inducibility is unable to identify high-risk patients, whereas the presence of a spontaneous type I ECG, history of syncope, ventricular effective refractory period 200 ms, and QRS fragmentation seem useful to identify candidates for prophylactic implantable cardioverter defibrillator. Priori S et al.j Am Coll Cardiol 2012;59:37 45
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