Disclosures Arrhythmogenic Right Ventricular Cardiomyopathy: Abbott - PDF document

9/14/2019 Disclosures Arrhythmogenic Right Ventricular Cardiomyopathy: • Abbott Labs: Grant support Diagnosis Harikrishna Tandri Associate Professor of Medicine Director of VT Ablation Johns Hopkins Medical Institutions www.ARVD.com Arrhythmogenic Right Ventricular Objectives Dysplasia/Cardiomyopathy • Provide overview of ARVC clinical • Familial cardiomyopathy presentation and diagnosis – Fibro-fatty infiltration of the • Describe the role of task force criteria RV – RV dysfunction • Describe MRI features of ARVC – Ventricular arrhythmias • Role of electroanatomic mapping • Concept of Arrhythmogenic • 1 in 5000 individuals Cardiomyopathy (Italy) 1

9/14/2019 Classic ARVC Is a Desmosomal Establishing an Accurate Myopathy Diagnosis • Comprehensive evaluation including history, family history, exercise history, physical exam, ECG, SAECG, Holter, Echo, MRI, and stress test • Genetic testing when the diagnosis is suspected • Application of the 2010 Task Force Criteria Figure 4. Approach to understand Figure 4. Approach to understanding the common pathway and genetic variants in a patient with 2010 ARVD Diagnostic Criteria Parameter 1994 Criteria 2010 Criteria RV Size and Function Non quantitative Quantitative Biopsy (major) Fibrofatty replacement < 60% nl myocytes & fibrous replacement +/- fat T wave inversion v2 Minor criteria in absence Major criteria in absence of RBBB and V3 RBBB QRS > 120 msec Minor: T wave inv V1, V2 or in V4,V5, and V6 or T in V1-v4 w RBBB Epsilon waves (major) Epsilon or localized Epsilon waves prolongation > 110 ms V1-V3 SAECG (minor) Late potentials Quantitative, 1 of 3 parameters TAD NA >= 55 msec in V1-v3 LBBB VT (minor) Minor criteria Major criteria if LB sup axis VT, European Heart J 2010; 31: 806-814. minor criteria if not Circ 2010; 121; 1533-41 Frequent PVCs (minor) > 1000/ 24 hrs > 500 / 24 hrs Family History (Major) Familial disease confirmed by ARVD in first degree relative OR autopsy or surgery pathogenic mutation in patient Family History (Minor) FH of premature SCD < 35 FH of ARVD where task force criteria yrs or family hx of ARVD unclear or premature SD < 35 yrs 2

9/14/2019 ARVD Diagnostic Criteria ฀ – – ECG Features of ARVD Parameter 1994 Criteria 2010 Criteria RV Size and Function Non quantitative Quantitative Biopsy (major) Fibrofatty replacement < 60% nl myocytes & fibrous replacement +/- fat “ ” T wave inversion v2 Minor criteria in absence Major criteria in absence of RBBB and V3 RBBB QRS > 120 msec Minor: T wave inv V1, V2 or in V4,V5, and V6 or T in V1-v4 w RBBB Epsilon waves (major) Epsilon or localized Epsilon waves prolongation > 110 ms V1-V3 SAECG (minor) Late potentials Quantitative, 1 of 3 parameters ฀ – TAD NA >= 55 msec in V1-v3 LBBB VT (minor) Minor criteria Major criteria if LB sup axis VT, minor criteria if not Frequent PVCs (minor) > 1000/ 24 hrs > 500 / 24 hrs Family History (Major) Familial disease confirmed by ARVD in first degree relative OR autopsy or surgery pathogenic mutation in patient Family History (Minor) FH of premature SCD < 35 FH of ARVD where task force criteria yrs or family hx of ARVD unclear or premature SD < 35 yrs Structural abnormalities in Arrhythmias in ARVC ARVD/C • High burden of PVCs • CMR is the modality of choice for RV evaluation • NSVT of LBBB morphology • May be unifocal or multifocal • Provides tissue characterization (Fat and fibrosis • Catecholamine sensitive imaging) • PVC count is both diagnostic and prognostic • RV quantitative functional assessment 3

9/14/2019 Advanced Fat detection: ARVD/C • Path RV RV LV RA • MRI RV Castillo et al, Radiology, 2004 ARVD/C ARVD RV RV LV RA LV RA 4

9/14/2019 Example of LV fat LV involvement in classic ARVC • Unrelated to RV disease • Prevalence about 25% • Usually asymptomatic • LV failure rare • Typically affects postero-lateral and inferior basal LV Fat in ARVD/C Regional dysfunction in ARVD/C • Not sensitive to the disease • More sensitive than fat (85% vs 68%) • Limited diagnostic value as a stand alone criteria • Earliest phenotypic expression of ARVD/C • Often associated with wall motion abnormality in ARVD • More reproducible compared to fat • Fat in the RV can be see in obesity and old infiltration*. age * Bomma C et al, J Cardiovasc Electrophysiol. 2004. 5

9/14/2019 MR Findings in early ARVD/C • Regional dysfunction limited to sub- tricuspid and RV OT • Best seen in axial cine and four chamber images Regional wall motion assessment Biventricular ARVC • Four chamber and axial images are optimal • Acute angle of the RV and the RV out flow are the regions of interest. 6

9/14/2019 Delayed Enhancement in ARVD/C Delayed enhancement in ARVD/C • PSIR sequence is preferred • Often diffuse and associated with RV dysfunction • Useful in differential diagnosis Diagnostic Value of Isoproterenol Testing in High dose catecholamine infusion ARVC 45 mcg/min for 3 minutes • Continuous infusion of isoproterenol (45 μ g/min) for 3 Complex Ventricular Ectopy I II minutes II I aVR • Polymorphic PVCs or NSVT in 32 of 35 (91.4%) aVL aVF patients with ARVC vs. 42 of 377 (11.1%) of non V1 ARVC V2 V3 • Sensitivity and specificity for ARVC were 91.4%, V4 V5 V6 88.9% respectively Denis A et al Circ Arrhythm Electrophysiol . 2014;7:590-597. 7

9/14/2019 Patterns of Epicardial Scar in ARVD/C Electroanatomic Substrate Classic ARVC patient • Athletic male or female • Age between 16-40 (mean 32 yrs.) • Family history of CM or SCD • Palpitations, post exertional syncope • T wave inversions beyond V3 • High PVC burden RV APEX IS NOT A FREQUENT SITE FOR • RV basal dyskinesis on CMR VT 8

9/14/2019 Less common presentations Clinical Assessment • Myocarditis with RV regional dysfunction • ECG, Holter, echocardiogram • PVCs during routine exam with abnormal • CMR 12 lead • EP study with mapping in difficult cases • VT/PVCs with LV basal epicardial • If diagnosis suspected - genetic counseling enhancement (DSP) • Follow up with Holter and echocardiogram • Dilated CM with high PVC burden (PLN/DSP) Arrhythmogenic Cardiomyopathies Genetic ACM (ACM) • Group of CM with high burden of arrhythmias and overlapping clinical presentations • ARVC is categorized as genetic ACM • Also includes Sarcoid, Amyloid and Chagasic CM 9

9/14/2019 Conclusions • ARVD/C is a highly arrhythmic genetic cardiomyopathy • Classic ARVC affects RV sub-tricuspid region • ALVC affects the epicardial LV and overlaps with dilated cardiomyopathy • RV arrhythmias are common in both ARVC and ALVC • Myocarditis and LV dysfunction can be presenting features • Diagnosis should be based on meeting the task force criteria (No single test is diagnostic) 10