Encica Svetlana, Molnar Adrian, Manole Simona, Filan Teodora, Oprița Simona, Bursașiu Eugen, Vulturar Romana, Damian Laura
Department of Pathology, "Niculae Stancioiu" Heart Institute Cluj-Napoca, 19-21, Calea Moților St, 400001 Cluj-Napoca, Romania.
Department of Cardiovascular Surgery, "Niculae Stancioiu" Heart Institute Cluj Napoca, 19-21, Calea Moților St, 400001 Cluj-Napoca, Romania.
Diagnostics (Basel). 2021 Mar 5;11(3):446. doi: 10.3390/diagnostics11030446.
Thoracic aortic aneurysms may result in dissection with fatal consequences if undetected. A young male patient with no relevant familial history, after having been investigated for hypertension, was diagnosed with an ascending aortic aneurysm involving the aortic root and the proximal tubular segment, associated with a septal atrial defect. The patient underwent a Bentall surgery protocol without complications. Clinical examination revealed dorso-lumbar scoliosis and no other signs of underlying connective tissue disease. Microscopic examination revealed strikingly severe medial degeneration of the aorta, with areas of deep disorganization of the medial musculo-elastic structural units and mucoid material deposition. Genetic testing found a variant of unknown significance the gene encoding the protein kinase cGMP-dependent 1, which is important in blood pressure regulation. There may be genetic links between high blood pressure and thoracic aortic aneurysm determinants. Hypertension was found in FBN1 gene mutations encoding fibrillin and in mutations. Possible mechanisms involving the renin-angiotensin system, the role of oxidative stress, osteopontin, epigenetic modifications and other genes are reviewed. Close follow-up and strict hypertension control are required to reduce the risk of dissection. Hypertension, scoliosis and other extra-aortic signs suggesting a connective tissue disease are possible clues for diagnosis.
胸主动脉瘤若未被发现，可能会导致夹层形成并产生致命后果。一名无相关家族病史的年轻男性患者，在接受高血压检查后，被诊断为升主动脉瘤，累及主动脉根部和近端管状段，并伴有房间隔缺损。该患者接受了Bentall手术方案，未出现并发症。临床检查发现患者存在背腰脊柱侧弯，无其他潜在结缔组织疾病的迹象。显微镜检查显示主动脉中层显著严重退变，中层肌肉弹性结构单元出现深度紊乱区域且有黏液样物质沉积。基因检测发现编码蛋白激酶cGMP依赖性1的基因存在一个意义不明的变异，该蛋白激酶在血压调节中起重要作用。高血压与胸主动脉瘤决定因素之间可能存在遗传联系。在编码原纤蛋白的FBN1基因突变中发现了高血压情况。本文综述了涉及肾素 - 血管紧张素系统、氧化应激作用、骨桥蛋白、表观遗传修饰及其他基因的可能机制。需要密切随访并严格控制高血压，以降低夹层形成的风险。高血压、脊柱侧弯及其他提示结缔组织疾病的主动脉外体征是可能的诊断线索。
