A Mother-Son Case of Non-Marfan Syndrome with Acute Aortic Dissection on the Same Day

Abstract

It is well known that Marfan syndrome is a genetic disorder characterized by congenital abnormality of connective tissue, in which the associated prognosis is affected by aortic lesions, and in particular the onset of aortic dissection, with some reports of familial aortic dissection. Meanwhile, it has been reported that in the absence of genetic disorder, aortic dissection occurring in two or more individuals within a family is rare. We experienced a mother-son case of non-Marfan syndrome that developed aortic dissection on the same day, and thus report our findings. Case 1 son was a 32-year-old man with no particular medical history observed. He had experienced epigastric pain in the early morning and come to the emergency room in our hospital, where contrast-enhanced computed tomography CT led to diagnosis of acute aortic dissection Stanford type B . He was admitted to the intensive care unit, and received treatment by anti-hypertensive therapy. Case 2 mother was a 61-year-old woman who was prescribed internal medicines for hypertension. She had been informed that her son was hospitalized for aortic dissection, and had visited the hospital to see him. While visiting her son in the hospital room, she developed sudden chest pain and remarkable cold sweats, and upon undergoing contrast-enhanced CT, she was diagnosed with acute aortic dissection Stanford type A . Then emergency hemiarch replacement was performed. In the family tree, there were some cases of cerebrovascular disease found on the mother s side. Pathology findings of the aorta for the mother revealed cystic medial necrosis and genetic screening subsequently performed revealed TGFBR2 mutation. Both subjects exhibited good progress, with the son discharged from hospital after three weeks, and the mother discharged 14 days after surgery.