Department of Heart and Vessels, Service of Cardiology, University Hospital of Lausanne, Lausanne, Switzerland.
Department of Hand Surgery, University Hospital of Strasbourg, Strasbourg, France.
Ann Thorac Surg. 2020 Apr;109(4):e279-e281. doi: 10.1016/j.athoracsur.2019.07.030. Epub 2019 Aug 29.
MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our familial case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.
MYH11（肌球蛋白重链 11）基因参与血管收缩，已有几个常染色体显性突变与胸主动脉瘤相关。同一个家庭的 3 名男性成员被发现携带 MYH11 基因的杂合错义变异，这 3 个人都表现出胸主动脉瘤/扩张。我们在 MYH11 基因中发现了一个罕见的错义变异，该变异预计具有破坏性，影响蛋白质肌球蛋白尾部的保守氨基酸。该变异似乎是导致我们家族性胸主动脉瘤的原因，因为临床表现结合了遗传动脉瘤的所有特征。
