ACM Causes
Genetic Mutations and Genetic Testing
Mapping the genetic mutations that affect the protein glue in your heart can give your medical team the chance to offer you different treatment options that are more personalized to your case. Genetic testing and counseling also gives your family the opportunity to learn more about the disease and find out whether they may have inherited the genes that trigger ACM (also referred to as ARVC/D in some videos.)
Jasonee’s Story
Genetics of ARVC (ACM)
Helpful Terminology
Cytoplasm: fluid inside a cell but outside of the cell center, or nucleus.
Myocyte: muscle cell
Myogenesis: process that creates muscle cells, negatively affected by problems with protein glue in ACM
Adipo-Fibrogenesis: process that creates fat and scar tissue
Dilation: widening
Syncope: fainting
Macro Reentry Circuit: scarring that blocks normal electrical activity and can cause irregular heartbeats
Desmosome: Protein glue that holds heart cells together like a fancy zipper
Myocardium: muscle tissue of the heart
Fibrofatty tissue: Fat and scar tissue that invades when desmosome glue starts to fail and heart cells detach from each other
Intercalated Discs: structures that help join neighboring heart muscle cells to each other
Gap Junctions: like a wormhole between cells that allows cells to talk to each other, share nutrients, and pass electrical signals
Causes of ARVC (ACM)
Common Mutation Locations that Affect Desmosome Glue Between Heart Cells
If you’d like a summary of the genetics of ACM (ARVC/D, ALVC/D, BAC), please check out the Johns Hopkins information here.