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Arrythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVD/C)

Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVD/C)

What is Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy?

Arrhythmogenic right ventricular dysplasia / cardiomyopathy (ARVD/C) is a rare familial disorder that may cause ventricular tachycardia and sudden cardiac death in young, apparently healthy individuals. The clinical hallmark of the disease are ventricular arrhythmias, arising predominantly form the right ventricle. The pathological hallmark of the disease is fibrofatty replacement of right ventricular myocardium.

What causes ARVD/C?

ARVD/C is caused by mutations in genes which encode desmosomal proteins. These proteins are involved with cell to cell adhesion. This important observation helps explain why ARVD/C is more common in athletes, and the delayed onset of the disease.

What are the symptoms of ARVD/C?

Symptoms of arrhythmogenic right ventricular dysplasia / cardiomyopathy include:

  • Arrhythmias – An abnormality in the timing or pattern of a heartbeat that presents as a racing heartbeat, skipping heartbeat,  palpitations, or fluttering sensation

    • Premature Ventricular Contractions (PVC) – extra or irregular heartbeats that occur when the electrical signal starts in the lower chamber of the heart (the ventricle)

    • Ventricular Tachycardia (VT) – a series of rapid heartbeats, originating in the ventricle. This may last only a few beats or this may continue and lead to life-threatening arrhythmias. VT can cause weakness, nausea, vomiting, and lightheadedness, as well as feelings a racing or skipping heart.
  • Syncope – Also referred to as fainting or a sudden loss of consciousness

  • Heart failure – Rarely a patient’s first symptoms are those associated with right heart failure including weakness, foot and ankle swelling (peripheral edema), fluid build-up in the abdomen (ascites), as well as arrhythmic symptoms.

  • Sudden cardiac arrest – In some patients, the first sign of ARVD/C is sudden cardiac arrest (SCA) where the heart stops beating and pumping blood to the rest of the body’s organs. This can result in death if not treated within minutes.

How is ARVD/C diagnosed?

ARVD/C generally presents clinically after puberty and before the age of 50 years. Diagnosis of ARVD/C is challenging and requires that a number of cardiac tests be performed. These tests may include:

  • Electrocardiogram

  • Signal Averaged Electrocardiogram

  • 24-hour Holter Monitor

  • Exercise Stress Test

  • Echocardiogram

  • Cardiac Magnetic Resonance Imaging (MRI)

  • Cardiac Computed Tomography (CT)

  • Genetic Testing

  • Electrophysiology Study

  • Right Ventriculogram (RV angiogram)

  • Cardiac Biopsy

How is ARVD/C treated?

Treatment options vary by patient, and are based on a patient’s cardiac test results, medical history, and the presence or absence of genetic mutations. The three most common treatments for arrhythmias are medication, implantable cardioverter defibrillators (ICDs) and catheter ablation.

What is the prognosis for ARVD/C?

Some patients will have a stable functioning heart for decades, while others may have spells of arrhythmias that require changes in medication or ablations. Research has shown that the long-term outlook for most people with ARVD/C is relatively good. Few patients develop such severe dysfunction or frequent episodes of ventricular tachycardia that a heart transplant may be necessary.

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