Arrhythmogenic right ventricular cardiomyopathy
If I have arrhythmogenic right ventricular cardiomyopathy will I always have symptoms?
Having a change or mutation in a gene that is associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) does not always cause the symptoms and complications of the condition. Due to many other factors we can't fully predict, some individuals with gene mutations in ARVC related genes can live standard life span without arrhythmias (a type of irregular heartbeat) or heart palpitations while others will have full progression of ARVC including sudden death. This is called "reduced penetrance" or variable penetrance", a term that means that not all people with a particular genetic change (such as a mutation in a specific gene) will exhibit signs and symptoms of a genetic disorder. However, all individuals with a gene mutations in ARVC related genes should be monitored closely for signs of the condition as it is progressive and early disease stages are often subtle.
Sometimes, the first sign that ARVC is running in a family is that someone will pass away from sudden cardiac death.
If someone has passed away in a family due to this cause, it is important to discuss possible inherited reasons with a cardiologist, medical geneticist, and/or genetic counselor familiar with genetic causes of sudden cardiac death. They can discuss testing options and possible causes of the condition. A cardiac focused genetic counselor in your area can be located using this link.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/arrhythmogenic-right-ventricular-cardiomyopathy-109924/symptoms/70247 • DATE UPDATED: 2019-11-15
McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right Ventricular Cardiomyopathy. 2005 Apr 18 [Updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1131/ Accessed March 29, 2019.
British Heart Foundation "Inherited heart conditions: Arrhythmogenic right ventricular cardiomyopathy". https://www.cardiomyopathy.org/downloads/information-section/bhf-booklets/arrhythmogenic-right-ventricular-cardiomyopathy.pdf Accessed 29MAR2019.