Arrhythmogenic right ventricular dysplasia Domina Petric, MD

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

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

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

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

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

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

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

It is more common in individuals of Greek and Italian origin. Epidemiology 1 in 1000-5000 It is more common in individuals of Greek and Italian origin.  Diagnostic challenge! Medscape.com

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

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

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

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

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

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

EPSILON WAVES Medscape.com

EPISLON WAVES in V1-V3 https://lifeinthefastlane.com

EPISLON WAVE IN DII https://lifeinthefastlane.com

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

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

Medscape.com Wikimedia commons Clinicaladvisor.com Literature Medscape.com Wikimedia commons Clinicaladvisor.com https://lifeinthefastlane.com Medscape.com