Symptoms and diagnosis (for patients)

Symptoms

Arrhythmias – An abnormality that presents as a skipping heartbeat, palpitations, fluttering sensation or racing heartbeat

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 feeling a racing or skipping heart.

Syncope – Fainting or a sudden loss of consciousness

Heart failure – Decreased heart function -“weak heart.” Rarely a patient’s first symptoms are those associated with right heart failure, including weakness, ankle swelling (peripheral edema), or fluid build-up in the abdomen.

Sudden cardiac arrest – Uncommonly, the first sign of ARVC/D 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.

Diagnosis

There is no single test that can either establish or exclude ARVD/C. The criteria that are used to determine ARVC/D include a family history physical exam, various cardiac tests, and genetic information.

Tests may include the following:

  • Electrocardiogram
  • Signal Averaged Electrocardiogram
  • 24-hour Holter Monitor
  • Exercise Stress Test
  • Electrophysiology Study
  • Genetic Testing
  • Images of the heart structure and function:
    • Echocardiogram
    • Cardiac Magnetic Resonance Imaging (MRI)
    • Cardiac Computed Tomography (CT)
    • Right Ventriculogram (RV angiogram)
  • Cardiac Biopsy