An MYLK mutation has been linked to thoracic aortic aneurysm and dissections (TAAD) in a recent case by Boelman et al., where a pathogenic splice variant that disrupted the FNIII domain was associated with thoracic aortic disease in the proband and his mother [64]. This evidence concerns the gene MYLK and Rare disease with thoracic aortic aneurysm and aortic dissection.