MYH11 variants in thoracic aortic aneurysm pathophysiology: From bench to bedside

MYH11 should be viewed as a clinically meaningful gene that is associated with TAAD and PDA. Current limited evidence shows that the phenotype is characterized by contractile dysfunction, increased aortic stiffness and potential susceptibility to hemodynamic stress. Future work should investigate translatable mechanistic studies, larger registries for genotype-phenotype correlations and evaluation of targeted gene therapy approaches.