Although c.4819G > A located in the MLCK kinase domain may also have a loss-of-function effect in vitro, further research is required in order to fully understand the variant functional effect, since missense variants were associated with a higher risk of first aortic event (elective aortic aneurysm surgery or acute aortic dissection) than truncating variants [18]. This evidence concerns the gene MYLK and aortic aneurysm.