Arrhythmogenic Right Ventricular Dysplasia

Definition

Definition of Arrhythmogenic Right Ventricular Dysplasia
Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular cardiomyopathy (ARVC) or arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is an inherited heart disease.

Symptoms

Symptoms of Arrhythmogenic Right Ventricular Dysplasia
ARVD is usually diagnosed at a young age (usually less than 40 years) and may cause sudden cardiac death in athletes. Symptoms may include:

1. Ventricular Arrhythmias: Irregular heart rhythms originating in the ventricles or lower chambers of the heart - The most common is ventricular tachycardia.
2. Palpitations: Fluttering in the chest due to abnormal heart rhythms
3. Dizziness, lightheadedness, or fainting caused by irregular heart rhythms
4. Sudden Cardiac Death: can be the first sign of ARVD
5. Heart Failure: shortness of breath with activity, inability to carry out normal activities without fatigue, swelling in the legs, ankles and feet (edema)

Causes

Causes of Arrhythmogenic Right Ventricular Dysplasia
ARVD is caused by genetic defects of the parts of heart muscle (also called myocardium or cardiac muscle) known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The desmosomes are composed of several proteins, and many of those proteins can have harmful mutations.

Diagnosis

Diagnosis of Arrhythmogenic Right Ventricular Dysplasia
The differential diagnosis for the ventricular tachycardia due to ARVD include:

Congenital Heart Disease:

• Repaired tetralogy of Fallot
• Ebstein's anomaly
• Uhl's anomaly
• Atrial septal defect
• Partial anomalous venous return

Acquired  Heart Disease:

• Tricuspid valve disease
• Pulmonary hypertension
• Right ventricular infarction
• Bundle-branch re-entrant tachycardia

Miscellaneous:

• Pre-excited AV re-entry tachycardia
• Idiopathic RVOT tachycardia
• Sarcoidosis

Treatment

Treatment of Arrhythmogenic Right Ventricular Dysplasia
The goal of management of ARVD is to decrease the incidence of sudden cardiac death. This raises a clinical dilemma: How to prophylactically treat the asymptomatic patient who was diagnosed during family screening.

A certain subgroup of individuals with ARVD are considered at high risk for sudden cardiac death. Characteristics associated with high risk of sudden cardiac death include:

1. Young age
2. Competitive sports activity
3. Malignant familial history
4. Extensive RV disease with decreased right ventricular ejection fraction.
5. Left ventricular involvement
6. Syncope
7. Episode of ventricular arrhythmia

Prognosis

Prognosis of Arrhythmogenic Right Ventricular Dysplasia
ARVD is a progressive disease. The fact that it may be found as the cause of sudden cardiac death in young athletes, or as an incidental finding at autopsy in older adults, illustrates the unpredictable course of this disease. Although multiple studies have demonstrated a favorable long-term prognosis in properly treated patients, few long-term prospective studies have been performed to determine if the course of ARVD can be modified. Therefore, lifelong monitoring of patients with ARVD by the primary care physician-cardiologist team is recommended.

Prevention

Prevention of Arrhythmogenic Right Ventricular Dysplasia
Patients with ARVD need to ask their physicians about exercise or participation in sports.