1. Arrhythmogenic right ventricular dysplasia
Domina Petric, MD

2. Introduction
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is an inherited cardiomyopathy.
It is characterized by structural and functional abnormalities in the right ventricle (RV) resulting in ventricular arrhythmias.
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3. Clinical significance
It is an important cause of sudden cardiac death in young adults:
11% of all cases and 22% of cases among athletes
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4. Pathophysiology
fatty infiltration and fibrosis of the myocardium of the RV
Right ventricle:
progressive RV dilatation and dysfunction
The prognosis is worse in patients with involvement of the LV!
Left ventricle:
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5. Mechanisms of myocardial loss are:
apoptosis (programmed cell death)
inflammation, enhanced fibrosis and loss of function
fatty replacement of myocardium
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6. Etiology ARVD is an inherited disorder (present in the fetus).
It may result from an acquired etiology such as viral infection (myocarditis).
Patients with a genetic predisposition are more likely to develop myocarditis.
Disease manifests more frequently in active individuals:
mechanical sheer stress can cause cell membrane damage, inflammation, and fibrosis in genetically predisposed individuals
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7. Genetics The most common pattern of inheritance.
Autosomal dominance
Autosomal recessive pattern
The most common pattern of inheritance.
Veneto region of Italy: higher penetrance of genes.
Naxos disease:
Greek island of Naxos
palmoplantar keratosis
wooly hair
The genetic mutation occurs on chromosome 17q21.
Penetrance is almost 100%
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8. Palmoplantar keratosis
Naxos disease
Wikimedia commons
Palmoplantar keratosis
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Wooly hair
Wikipedia
ARVD
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9. It is more common in individuals of Greek and Italian origin.
Epidemiology
1 in
It is more common in individuals of Greek and Italian origin. 
Diagnostic challenge!
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10. Clinical presentation
Palpitations (27%-67%)
Syncope (26%-32%)
Sudden cardiac death (10%-26%)
Atypical chest pain (27%)
Dyspnea (11%)
Isolated ventricular ectopics
Ventricular tachycardia
Ventricular fibrillation
Sudden cardiac death
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11. Clinical presentation
Progressive RV dysfunction results in dyspnea and leg swelling.
In more severe cases with LV involvement, patients may present with biventricular congestive heart failure.
Supraventricular arrhythmias (atrial flutter and fibrillation) may be seen in 25% of cases. 
Exercise can induce ventricular arrhythmias and sudden cardiac death.
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12. 1 major and 2 minor criteria 1 major and 1 minor criteria
DIAGNOSIS
Definite diagnosis
2 major criteria
1 major and 2 minor criteria
4 minor criteria
Borderline diagnosis
1 major and 1 minor criteria
3 minor criteria
Possible diagnosis
1 major criterion
2 minor criteria
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13. normal in the latent phase of ARVD
ECG findings
normal in the latent phase of ARVD
intraventricular conduction abnormality
T wave abnormalities
anteroseptal T wave inversion
epsilon waves
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14. Major ECG criteria
Inverted T waves in right precordial leads in individuals older than 14 years in the absence of complete right bundle branch block (87% of patients).
Epsilon waves (low-amplitude signals between end of QRS complex and the onset of T wave) in leads V1-V3 (33% of patients).
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15. Inverted T waves in V1-V2 without complete RBBB
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16. EPSILON WAVES
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17. EPISLON WAVES in V1-V3

18. EPISLON WAVE IN DII

19. Therapy
The goal of therapy is to reduce the frequency and severity of arrhythmias.
Beta-blockers are the first line of drug therapy. 
Sotalol is the most effective drug for inducible or noninducible ventricular tachycardia. 
An implantable cardioverter-defibrillator (ICD) is recommended for secondary prevention of sudden cardiac death in patients with sustained ventricular tachycardia or ventricular fibrillation, and for primary prevention in high-risk patients.
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20. Message at the end
Dear GENERAL PRACTITIONERS be ready to recognize ARVD and send the patient to the cardiologist!
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21. Medscape.com Wikimedia commons Clinicaladvisor.com
Literature
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Wikimedia commons
Clinicaladvisor.com
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