Arrhythmogenic right ventricular dysplasia (ARVD)

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Cardiomyopathies
Dilated cardiomyopathy (DCM) Hypertrophic cardiomyopathy (HCM) Restrictive cardiomyopathy (RCM) Arrhythmogenic right ventricular cardiomyopathy/ dysplasia (ARVC/D) Unclassifiecardiomyopathiesd cardiomyopathies

Arrhythmogenic right ventricular dysplasia

Arrhythmogenic right ventricular cardiomyopathy (ARVC) ARVC/D Scarred appearance of the RV free wall Global producing RV dilation

PATHOGENESIS
Impaired desmosome function when subjected to mechanical stress causes myocyte detachment and cell death. The myocardial injury may be accompanied by inflammation as the initial phase of the repair process Results in fibrofatty replacement

Genetics
Two patterns of inheritance AD form AR form called Naxos disease Desmoplakin,Plakoglobin is a key component of desmosomes and maintaining tight cell-cell adhesion

Autosomal recessive disease and Naxos disease

cardiocutaneous syndrome including hyperkeratosis of the palms and soles and woolly hair Plakoglobin gene Ch17q21 Desmoplakin gene

Autosomal dominant disease

14q23-q24 (ARVC1) 1q42-q43 (ARVC2) 14q12-q22 (ARVC3) 2q32 (ARVC4) 3p25 (ARVC5) 10p12-p14 (ARVC6) 10q22, 6p24 (ARVC8) 12p11 (ARVC9)

 Desmoplakin gene
tight adhesion of many cell types, including those in the heart and skin. When these junctions are disrupted, cell death and fibrofatty replacement occur

Plakophilin-2 gene Desmoglein-2 gene Desmocollin-2 gene TMEM43 gene RyR2 gene TGF-beta-3 gene

Incidence
Unknown But the prevalence in the general adult population is estimated to be ~ 1:1000 Important cause of SCD in young adults

CLINICAL PRESENTATION
Ages of 10 and 50 y <mean 30 y> Principle symptoms are dizziness
Palpitation Syncope Atypical chest pain Dyspnea RV failure 67 % 32 % 27 % 11 % 6%

Ventricular arrhythmias
Typically present with symptomatic ventricular arrhythmias PVC - Sustained VT LBBB Incidence of PVC ~ 92 % in Naxos disease But it is not clear Naxos disease have a higher incidence of sustained VT & SCD

Sudden cardiac death

Can be the first presentation The average age was 34 years and the risk was similar in men and women Polymorphic VT and juvenile SCD associated with sympathetic stimulation may be seen in patients with ARVC2, which is due to mutations in the cardiac ryanodine receptor RyR2

Risk of exercise
Both VT and SCD in patients with ARVC can be exercise-induced Selected populations ARVC is a frequent cause of SCD in athletes Should not participate in competitive sport

Supraventricular arrhythmias
Supraventricular arrhythmias Atrial fibrillation Atrial tachycardia Atrial flutter Present ~ 25 %

Noncardiac manifestations
A minority of patients with familial ARVC Autosomal recessive disease, Associated with palmoplantar keratosis and wooly hair.

LEFT VENTRICULAR INVOLVEMENT

Three patterns of disease
Classic : isolated RV dz or LV involvement in ass. with significant RV impairment Left dominant : early and prominent LV manifestations and relatively mild right-sided dz Biventricular : involvement of both ventricles The possibility of left-sided ARVC should be considered in patients presenting with apparent dilated cardiomyopathy with sustained VT or SCD

DIAGNOSTIC CRITERIA
Task force criteria 1994 Modified for familial ARVC 2010 revision
Global and/or regional dysfunction and structural alterations Tissue characterization of wall Repolarization abnormalities on the ECG Depolarization/conduction abnormalities on the ECG Arrhythmias Family history

Original 2 Major or 1 Major + 2 Minor criteria or 4 Minor criteria from different groups Revised criteria Definite diagnosis: 2 Major or 1 Major + 2 Minor criteria or 4 Minor from different categories Borderline: 1 Major +1 Minor or 3 Minor criteria from different categories Possible: 1 Major or 2 Minor criteria from different categories

ECG
As many as 40 to 50 % normal ECG at presentation However, by 6 years, virtually all patients with ARVC have one or more ECG findings during normal sinus rhythm

ECG
QRS prolongation in lead V1 vs V6 A pattern of incomplete or complete RBBB A prolonged S wave upstroke (interval from the nadir of the S wave to the isoelectric baseline 55 msec) 30 % of pts have an epsilon wave Inversion of T waves in the right precordial leads (V1, V2, and V3)

Echocardiograph
Performed to look for structural or functional abnormalities (particularly in the RV) in patients without known heart disease who present with VT of LBBB morphology Right ventricular dilatation with localized to widespread regional wall motion abnormalities

Cardiovascular magnetic resonance

Global and regional ventricular dilation, global and regional ventricular dysfunction, intramyocardial fat, late gadolinium enhancement (LGE) and focal wall thinning

Right ventricular angiography

Evaluation of the RV structure and function Angiographic findings include transversely arranged hypertrophic trabeculae separated by deep fissures, and coarse trabeculae in the apical region distal to the moderator band The 2010 revised Task Force Criteria include as a major criterion the presence of regional RV akinesis, dyskinesis or aneurysm by RV angiography

Electrophysiologic testing and electroanatomic mapping

The 2006 ACC/AHA/ESC guidelines for ventricular arrhythmias and SCD Might be useful for risk assessment of SCD in patients with ARVC

Endomyocardial biopsy
Confirmation of the diagnosis by endomyocardial biopsy Not commonly performed because biopsy lacks specificity and sensitivity Histopathologic detection of fibrous or fibrofatty tissue in the myocardium is not specific to ARVC RV free wall biopsy may increase the risk of myocardial perforation

Genetic testing
Gene mutations Desmosomal components Plakophilin One or more of the desmosomal components

Other tests
Isoproterenol infusion Radionuclide ventriculography Multidetector computed tomography (MDCT)

DIFFERENTIAL DIAGNOSIS FOR ARVC

Uhl's anomaly, a partial or complete congenital absence of the RV myocardium Idiopathic RV tachycardia Localized inflammatory process in the right ventricle, most commonly myocarditis or sarcoidosis

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