We have over 20,000 different genes in the body. These genes are like instruction manuals for how to build a protein, and each protein has an important function that helps to keep our body working how it should. The RYR2 gene makes a protein called ryanodine receptor 2. The ryanodine receptor 2 protein helps to form channels to move calcium between cells. These calcium channels allow cells to make and transmit signals which help to make the heart beat at a normal rhythm. The calcium channels that are made by the RYR2 gene are primarily in the heart muscles.
If someone has a harmful change (called a pathogenic variant) in one of their RYR2 genes, then their body is not going to make enough of the ryanodine receptor 2 protein as it should. If there is not enough ryanodine receptor 2 protein, then there will not be enough calcium channels. This would mean that the heart’s ability to send these signals is not going to work as well as it should. This can lead to a heart condition called catecholaminergic polymorphic ventricular tachycardia.
Pathogenic variants in the RYR2 gene are passed through a family in an autosomal dominant pattern, meaning that anyone who carries the variant has a 50% chance to pass it down to any children they have. Women and men both have the RYR2 gene and have the same chances to inherit and pass down pathogenic variants.
Genetic testing for pathogenic variants in RYR2 is currently available, but there are a few different ways to approach testing: