Arrhythmogenic right ventricular cardiomyopathy

Most known gene changes, mutations, or variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) are related to the creation and function of desmosomes. Desmosomes support the role of heart muscle cells attaching to one another. This further provides strength to the heart muscle, as well as helping to cells talk to one another. Desmosomes that are impacted by an abnormal formation and/or function, can cause cells heart muscle to detach from one another and ultimately die. Myocardium death is increased when the heart muscle is under stress such as during exercise. This causes the myocardium cells surrounding the right ventricle to be damaged, detach, die, and be replaced by fat and scar tissue called fibrofatty tissue. As abnormal tissue continues to accumulate, the walls of the right side of the heart (ventricle) are prone to stretching and unable to pump blood throughout the body the way it should. Much like electrical wiring in your house can be disrupted, the electrical signals responsible for your heartbeat can be interrupted and can cause deadly arrhythmias and sudden cardiac death.

People can be diagnosed by a doctor with arrhythmogenic right ventricular cardiomyopathy (ARVC) and never have an identified genetic cause of their ARVC found. If genetic testing was completed and came back "negative", this may occurs because scientists still haven't identified all the genes or mutations/variants in genes associated with ARVC. Accordingly, a negative genetic testing result in a person with ARVC does not take away that diagnosis. A negative test just means that a specific genetic explanation for the ARVC has not been identified yet. Given the rapid advances in the understanding of the genetic causes of health issues, it can be helpful to talk to a genetic counselor to learn if there is additional testing for a person with ARVC even if previous testing did not find a confirmed cause of their ARVC. Genetic counselors in a particular area can be reached at the National Society of Genetic Counselor's site.