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For Patients - Symptoms and Diagnosis
Find out more about the genetics of ARVD/C.
- 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.
There is no single test that can either establish or exclude ARVD/C. The criteria that is used to determine ARVD/C is a physical exam, family history, various cardiac tests, and genetic information. Tests may include:
- Signal Averaged Electrocardiogram
- 24-hour Holter Monitor
- Exercise Stress Test
- Cardiac Magnetic Resonance Imaging (MRI)
- Cardiac Computed Tomography (CT)
- Genetic Testing
- Electrophysiology Study
- Right Ventriculogram (RV angiogram)
- Cardiac Biopsy
The diagnosis of ARVD/C is based on meeting a set of specific criteria that take into account ECG abnormalities, arrhythmias, structural abnormalities, tissue characteristics, as well as family history and genetics. In 1994, an International Task Force proposed criteria for the clinical diagnosis of ARVD/C, based on these various categories. These criteria were very specific to ARVD/C, however they lacked sensitivity in diagnosing milder or atypical presentations. These diagnostic criteria were revised in 2010 and now incorporate the advances in both technology and genetics. Information from ECGs, signal averaged ECG, exercise stress test, Holter monitors, echocardiograms, MRIs, family history and genetic testing is important when applying the diagnostic criteria. View a comparison chart of the ARVD diagnosis criteria for 1994 and 2010.
The Diagnostic Criteria for ARVD/C
A definite diagnosis of ARVD/C consists of the following criteria options from different categories:
- 2 major criteria, or
- 1 major and 2 minor criteria, or
- 4 minor criteria.
A borderline diagnosis consists of the following criteria options from different categories:
- 1 major and 1 minor criteria, or
- 3 minor criteria
A possible diagnosis consists of the following criteria options from different categories:
- 1 major criteria, or
- 2 minor criteria
The major condition which needs to be differentiated from ARVD/C is idiopathic ventricular tachycardia arising from the outflow tract. The ventricular tachycardia can be exactly the same, but there is no structural abnormality of the heart, unlike the situation in ARVD/C where commonly there is dilation of the ventricle, abnormal contraction, or reduced function. Right ventricular outflow tract tachycardia (RVOT) is more common than ARVD/C and occurs in young, otherwise healthy people. The treatment is either with medications or with catheter ablation.
Do you have more questions about ARVD/C? Check out our questions and answers page.
To request an appointment with the Johns Hopkins ARVD/C Program, please contact Crystal Tichnell, MGC at 410-502-7161 or firstname.lastname@example.org.