Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1) is a genetic disorder that causes degeneration (decreased function) of the right side of the heart. This can cause arrhythmias as well as other heart dysfunctions. The condition usually appears during adulthood, but can appear earlier in life, especially in athletes. Initial weakening of the heart wall may not cause symptoms but still leaves the person with an increased risk of sudden death, especially during strenuous exercise.
Symptoms may include shortness of breath, sensations of heart fluttering or pounding, dizziness, or light headedness. ARVD1 is estimated to affect 1 in 1000 people. The condition may be underdiagnosed because many conditions have similar symptoms.
Roughly half of ARVD1 cases can be attributed to a dominant mutation. In the other half the cause is unknown; likely an undiscovered mutation. If the mutation is dominant this means that having a single parent with the gene gives children a fifty percent chance to inherit the condition. The most frequent mutations are found in genes or desmosomes that are protein linkages which hold cells together, allowing them to form the muscular layers of the heart that contract to pump blood. Without these structures to bind the cells together, the cells may become removed from the heart which will weaken the strength of the walls. A diagnosis can be made by identifying a causative mutation in the patient or through imaging of the heart to see deterioration of the heart wall.
Treatment varies based on individual cases, but it often includes lifestyle modifications such as avoiding stress on the heart through physical activity, reduction of caffeine, and reduction of alcohol consumption. If you or a family member has been diagnosed with this condition, talk to your doctor about the best treatment options and resources. Support groups are also good sources for information.
Description Last Updated: Jan 13, 2018