Pearls of the ESC/ERS Guidelines 2015 Channelopathies
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1 Pearls of the ESC/ERS Guidelines 2015 Channelopathies Carina Blomstrom Lundqvist Dept Cardiology, Uppsala, Sweden
2 Content 2015 ESC Guidelines for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death 2
3 3 Autopsy and molecular autopsy in sudden death victims ~ 50% of cardiac arrests occur in individuals without known heart disease. Every time a heritable disease is identified in a deceased individual, the relatives may be at risk of being affected and dying suddenly. NEW! - DNA analysis should be a fundamental component of post mortem assessment in SD victims, especially in young.
4 4 Screening patients with suspected or known ventricular arrhythmias ECG Holter Event recorders ILR if conventional techniques fail Suspected exercise induced VA Speaker
5 5 Screening patients with suspected or known ventricular arrhythmias EP study not indicated in LQTS, CPVT and SQTS, while its utility is debated in BrS.
6 Long QT Syndrome (LQTS): Diagnosis NEW DIAGNOSTIC CRITERIA Genetic screening disease causing mutation in 75%. 3 main genes (KCNQ1, KCNH2 and SCN5A) account for 90%
7 Long QT Syndrome (LQTS): Management
8 Long QT Syndrome (LQTS): Management
9 Long QT Syndrome (LQTS): Management
10 LQTS: stratification of individual risk Survivors of CA high recurrence risk, even on betablockers (14% in 5 yrs): supports use of ICDs. Syncope - increased risk of cardiac arrest. Women with LQTS - increased risk during 9-mo postpartum period (especially LQT2 genotype). Silent mutation carriers - modest risk of cardiac events; 10% between birth and age 40 yrs; beta-blockers should be considered Prophylactic ICD may be considered in high-risk pats; - women with LQT2 + QTc 500 ms, - pats with QTc 500 ms + signs of electrical instability - pats with high-risk genetic profiles (2 mutations, incl. Jervell and Lange Nielsen syndrome or Timothy syndrome)
11 Short QT Syndrome (SQTS) 5 genes linked to SQTS; (KCNH2, KCNQ1, KCNJ2, CACNA1C and CACNB2b), but yield of genetic screening low (20% overall). Probability of a first CA by age 40 years is 40%.
12 Short QT Syndrome (SQTS)
13 Brugada Syndrome (BrS): Diagnosis NEW DIAGNOSTIC CRITERIA Incidence Prevalence of ranges sustained from 1:1000 VT or to VF 1:10 or 000 ICD Rx or SCD; At 14% least /year 12 genes if history associated of with SCA, Brugada syndrome; but only 2 (SCN5A 3.2% / and year CACN1Ac) if syncope individually account for > 5% of positively genotyped pats. 1% / year in asymptomatic pats Fever, excessive, alcohol intake and large meals are triggers Fauchier L, Int J Cardiol 2013 that unmask a type I ECG pattern and predispose to VF.
14 Brugada Syndrome (BrS): Management Lifestyle changes Secondary prevention Primary prevention
15 Brugada Syndrome (BrS): Management Prognostic value of PES debated Most clinical studies not confirmed positive / negative predictive value for cardiac events at follow-up. Priori SG, PRELUDE registry. JACC 2012 Quinidine - preventive therapy? reduces VF inducibility during PES no data confirming its ability to reduce risk of SCD. Epicardial catheter ablation over anterior RVOT may prevent electrical storms? data require confirmation Nademanee K, Circulation 2011
16 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT): Diagnosis Rare (1:10 000) inheritable arrhythmogenic disorder. Clinical manifestations usually in first decade of life Diagnosis challenging: normal ECG and echocardiogram
17 CPVT: Diagnosis Bidirectional VT
18 CPVT: Management ICD programming: long delays before shock - painful shocks can increase sympathetic tone - trigger arrhythmias - malignant cycle of ICD shocks and death.
19 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT): Management
20 20 Conclusions Compared to ESC (ACC-AHA) 2006 GL on Management of ventricular arrhythmias and Prevention of sudden death, significant changes are present. Content User-friendlier format Emerging indications
21
22 Long QT Syndrome (LQTS): Diagnosis Genetic screening identifies a disease-causing mutation in 75% of LQTS cases. 3 main genes (KCNQ1, KCNH2 and SCN5A) account for 90%: Subtypes of LQTS grouped into 3 categories: 1. Autosomal dominant LQTS (Romano Ward syndrome; prevalence 1:2500), includes LQT 1 6 and LQT 9 13, characterized by isolated prolongation of QT interval; 2. Autosomal dominant LQTS + extracardiac manifestation; 3. Autosomal recessive LQTS (Jervell and Lange Nielsen syndrome), extremely prolonged QT interval + congenital deafness
23 LQTS risk score Schwartz, Circulation. 1993
24 Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT): Management
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