Arrhythmogenic right ventricular dysplasia

Presentation on theme: "Arrhythmogenic right ventricular dysplasia"— Presentation transcript:

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. Medscape.com

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 Medscape.com

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: Medscape.com

5 Mechanisms of myocardial loss are:
apoptosis (programmed cell death) inflammation, enhanced fibrosis and loss of function fatty replacement of myocardium Medscape.com

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 Medscape.com

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% Medscape.com

8 Palmoplantar keratosis
Naxos disease Wikimedia commons Palmoplantar keratosis Clinicaladvisor.com Wooly hair Wikipedia ARVD Medscape.com

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! Medscape.com

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 Medscape.com

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. Medscape.com

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 Medscape.com

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 Medscape.com

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). Medscape.com

15 Inverted T waves in V1-V2 without complete RBBB
Medscape.com Medscape.com

16 EPSILON WAVES Medscape.com

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. Medscape.com

20 Message at the end Dear GENERAL PRACTITIONERS be ready to recognize ARVD and send the patient to the cardiologist! Medscape.com

21 Medscape.com Wikimedia commons Clinicaladvisor.com
Literature Medscape.com Wikimedia commons Clinicaladvisor.com Medscape.com