Arrhythmogenic Right Ventricular Dysplasia

Arrhythmogenic right ventricular dysplasia (ARVD) is a rare type of cardiomyopathy. It occurs when the muscle tissue in the right ventricle dies and is replaced with scar tissue. This disrupts the heart's electrical signals and causes arrhythmias. Symptoms include palpitations, fatigue, fainting and even cardiac arrest after physical activity. Palpitations are feelings that your heart is skipping a beat, fluttering or beating too hard or too fast.

Teens and young adults are more likely than older people to have ARVD, although it’s rare in both groups. It can cause sudden cardiac arrest (SCA) in young athletes.

Other names for ARVD

• Arrhythmogenic right ventricular cardiomyopathy
• Right ventricular dysplasia

What causes ARVD

• Researchers believe that ARVD is an inherited disease due to gene mutations. Researchers have found at least 13 genes that may cause this condition when mutated. The mutated genes affect proteins that are responsible for heart muscle development. In 30%-50% of cases there is a family history of ARVD.
• There are two patterns of inheritance:
  • Autosomal dominant: Where one parent has the mutation. Family members have a 50% chance of inheriting the abnormal gene.
  • Autosomal recessive: Where both parents have the mutation but no symptoms.

ARVD may also be related to other causes including congenital abnormalities, viral or inflammatory infections of the heart muscle or other unknown causes.

Diagnosis

Diagnosis of ARVD is challenging since symptoms are common for other diseases. Your health care professional will use several tests to make the diagnosis including an electrocardiogram, echocardiography, cardiac MRI and possibly a heart biopsy.

Treatment and management

The goal of treatment is to prevent or reduce the risk of sudden cardiac death.

• Medicines will be used to manage arrhythmias and prevent clot formation.
• Catheter ablation may be used to stop the electrical impulses that cause irregular heart rhythms.
• Surgery to place an implantable cardiac defibrillator in the heart is the most effective way to prevent sudden death.
• A heart transplant may be done if arrhythmias do not respond to interventions or the heart failure isn’t being controlled by the medications.

Prognosis

With modern medicine and advance imaging protocols, including cardiac MRI, the prognosis is favorable especially in families who undergo genetic testing.