Post on 14-Mar-2020
ΠώςΠώςδιαγιγνώσκωδιαγιγνώσκωτα ηλεκτρικάτα ηλεκτρικάνοσήματα;νοσήματα;
Ι.Ι. ΣκιαδάςΣκιαδάςΙπποκράτειο ΑθήνωνΙπποκράτειο Αθήνων
• Sudden cardiac death (SCD) is predominantly related tocoronary artery disease and its sequelae, cardiomyopathy,and congenital or valvular heart disease.
• No structural abnormalitiesare detectable in 5–8% of SCDs.
• Identified ion channelopathiessuch as Brugada syndrome,long-QT syndrome(LQTS),and catecholaminergicpolymorphic ventriculartachycardia (CPVT)contribute to this incidence.
McGorrian C, et al. Europace 2013;15:1050-1058.
Σημαντικές θεωρίες με αποδείξεις…Σημαντικές θεωρίες με αποδείξεις…
ΆτομοDNA
Σύναψη (δίαυλοι)
Jean-Pierre Changeux: , L’homme neuronal,1998
Δημόκριτος
1998, MacKinnon: Πρώτη απεικόνηση
… αλλιώς διαυλοπάθειες …
Deciphering the mystery….
progress continues
Signals are received and sent…
… for us to interpret
• The diagnosis of an inheritable arrhythmogenicdisorder is established in up to 50% of familieswith a SADS victim, especially channelopathies[e.g. LQTS, Brugada syndrome andcatecholaminergic polymorphic ventriculartachycardia (CPVT)] and occasionally subtleforms of cardiomyopathy [HCM andarrhythmogenic right ventricular cardiomyopathy(ARVC) in particular] or familialhypercholesterolaemia.
Recommendationswith low level of evidence
• The most obvious differenceen countered forinherited diseases is that randomized and/orblinded studies do not exist in this field.Therefore most of the available data derivefrom registries that have followed patientsand recorded outcome information.
• As a consequence, all consensusrecommendations are level of evidence (LOE)C (i.e.,based on experts’ opinions).
• Long QT Syndrome (LQTS)• Brugada Syndrome (BrS)• Catecholaminergic Polymorphic Ventricular
Tachycardia (CPVT)• Short QT Syndrome (SQTS)• Early Repolarization (ER)• Progressive Cardiac Conduction Disease (PCCD)• Unexplained Cardiac Arrest: Idiopathic VF• Unexplained Cardiac Arrest: Sudden Unexplained Death Syndrome (SUDS) and
Sudden Unexplained Death in Infancy (SUDI)
Ομάδες νοσημάτων
LQT 1 / 2.500
Brugada 1 / 1.-10.000
CPVT 1 / 10.000
Επιπολασμόςστο γενικό πληθυσμό
Στις οικογένειες
4 / 12.000
ΗΚΓ στο γενικό πληθυσμό
fighting new wars with old weapons
Definitions of special terms• Syncope (exlusion of vasovagal)
• Symptomatic individuals
• Arrhythmic events
• Concealed mutation-positive patients
www.crediblemeds.org
QTdrugslist
ECG in LGTs
Προτεινόμενος αλγόριθμος διερεύνησης LQT Syndrome
Obeyesekere M N et al. Circ Arrhythm Electrophysiol. 2011;4:958-964
Δοκιμασίες πρόκλησης ηλεκτρικών νοσημάτων
Obeyesekere M N et al. Circ Arrhythm Electrophysiol. 2011;4:958-964
Exercise testing in LQTS
• Exercise stress testing has also been used for differentiatingLQT1, LQT2, and unaffected individuals.
• End-of-recovery QTc may have clinical use in distinguishing patients withLQTS from healthy individuals — a QTc >445 ms at the end of recovery (4minutes after cessation of exercise) had a sensitivity of 92% and specificity of88% at identifying LQT1 and LQT2 individuals.
• Furthermore, early-recoveryQTc may be used to distinguishLQT1 from LQT2 patients: earlyrecovery QTc > 460 ms had asensitivity of 79% and specificityof 92% at identifying LQT2patients (from LQT1).
Chattha IS, et al. Heart Rhythm. 2010Sy RW, et al. J Cardiovasc Electrophysiol. 2010
• The diagnosis of BrS requires the signaturetype 1 Brugada ECG pattern.
• Genetic testing is not involved in thediagnosis, but the identification of acausative mutation may help confirm aclinically uncertain diagnosis.
• The involvement of loss-of-functionsodium channel mutations, thepredominant genetic cause of BrS,may be recognized by moreor less discrete conduction disordersat different levels of the heart. Fever, exces-sive alcohol intake and large meals are triggers that unmask a type IECG pattern and predispose to VF
Brugada Syndrome (BrS)
Σύνδρομο Brugada
• Symptoms associated with BrS include:• 1. VF or aborted SCD (more often at night
than during the day)• 2. Syncope• 3. Nocturnal agonal respiration• 4. Palpitations• 5. Chest discomfort
Επιδημιολογικάσύνδρομου Brugada
• VF occurs at a mean age of 41±15 years but itmay manifest at any age, usually during restor sleep
• incidence of arrhythmic events– 13.5% per year in patients with a history of
sudden cardiac arrest,– 3.2% per year in patients with syncope– 1% per year in asymptomatic patients
Υποστηρικτικά σημεία
•1st-2nd decade of life
•Low heart rate
•Holter monitoring, exercisestress test or implantable looprecorders
•Drug challenge withepinephr-ine or isoproterenolmay elicit arrhythmias(sensitivity not defined)
CPVT• an exercise stress test that elicits atrial
arrhythmias and VA (bidirectional or polymorphicVT) is recommended to establish the diagnosis
Obeyesekere M N et al. Circ Arrhythm Electrophysiol. 2011;4:958-964
• Five genes have been linked to SQTS (KCNH2, KCNQ1, KCNJ2,CACNA1C and CACNB2b), but the yield of genetic screeningremains low (20% overall).
• highly lethal in all age groups,including children in their firstmonths of life
• the probability of a first cardiacarrest by the age of 40 years is>40%.
• Given the small size of thepopulations reported so far, thehigh lethality may partially reflecta reporting bias related to theunderdetection of SQTS inasymptomatic patients
SQT syndrome
Early Repolarization Syndrome
1%–13% of the general population15%–70% of idiopathic VF cases
Συνοψίζοντας• Η διαγνωση των ηλεκτρικών νοσημάτων θέλει πρώτα απ’όλα υψηλή
κλινική υποψία και εγρήγορση από μέρους του κλινικού ιατρού, καθώς τοΗΚΓ ηρεμίας μπορεί να είναι φυσιολογικό , μεθοριακό ή μη ειδικό!!!
• Ιδιαίτερη προσοχή και αντιμετώπιση χρήζουν οι ψυχικές κι κοινωνικέςεπιπτώσεις της ανακοίνωσης ενός τέτοιου απειλητικού νοσήματος.
• Στο LQTs το όριο είναι 480msec, και ο γενετικός έλεγχος έχει σημασία, στοBrugada το ΗΚΓ τύπου 1 είναι από μόνο του αρκετό για την διάγνωση, ενώστην CPVT η παρουσία της αρρυθμίας ή ο γενετικός έλεγχος (δύο θέσειςγονιδίων) θέτει διάγνωση.
• Συχνά δοκιμασίες πρόκλησης φαρμακολογικές ή με άσκηση μπορεί ναχρειαστούν για να αποκαλυφθεί η λανθάνουσα παθολογία.
• Η πολύπλευρη από ειδικότητες και δοκιμασίες προσέγγιση καιδιαστρωμάτωση είναι η δέουσα προσέγγιση.