Giant Aortic Aneurysm in an Infant With Arterial Tortuosity Syndrome

Abstract

A 1-month-old boy presented with malignant arterial hypertension, cardiac failure, and respiratory symptoms. Chest computed tomographic scan revealed diffuse arterial tortuosity, an aneurysm of the descending aorta (30 × 25 mm) with left airway compression, and a coarctation. Arterial tortuosity syndrome (ATS) was confirmed by two mutations in the SLC2A10 gene (20q13.12). Symptoms and hypertension were improved by an optimal medical treatment, allowing the growth of the infant. At 1 year, chest computed tomographic scan revealed a giant aneurysm of the descending aorta (98 × 71 mm), a coarctation proximal to the aneurysm (6 mm), and a tortuous abdominal aorta (6 mm; Fig 1) . Because of the fast aneurysm expansion, surgery was performed. Through a left posterolateral thoracotomy (fifth space), a moderately hypothermic beating heart cardiopulmonary bypass was established between the right atrial appendage and the ascending aorta. The aneurysm was resected, and an end-to-end aortic anastomosis was performed (clamping time, 32 minutes). No complications occurred. The histologic description was consistent with ATS. At 9 months after surgery, chest computed tomographic scan shows an excellent anatomic result (Fig 2) in a patient free of symptoms.Fig 2View Large Image Figure ViewerDownload (PPT)Arterial tortuosity syndrome is an autosomal recessive rare condition characterized by tortuosity, stenosis, and aneurysm formation in the major arteries. The high risk of aneurysm rupture in ATS led us to perform surgery in infancy. The surgeons took advantage of the elasticity and tortuosity of the remaining descending aorta to avoid the use of a prosthetic material in this growing infant. This autologous tissue technique could have allowed the patient to be operated on even earlier. Mid-term prognosis will essentially depend on other ATS-related cardiovascular complications, which warrant a lifelong follow-up. A 1-month-old boy presented with malignant arterial hypertension, cardiac failure, and respiratory symptoms. Chest computed tomographic scan revealed diffuse arterial tortuosity, an aneurysm of the descending aorta (30 × 25 mm) with left airway compression, and a coarctation. Arterial tortuosity syndrome (ATS) was confirmed by two mutations in the SLC2A10 gene (20q13.12). Symptoms and hypertension were improved by an optimal medical treatment, allowing the growth of the infant. At 1 year, chest computed tomographic scan revealed a giant aneurysm of the descending aorta (98 × 71 mm), a coarctation proximal to the aneurysm (6 mm), and a tortuous abdominal aorta (6 mm; Fig 1) . Because of the fast aneurysm expansion, surgery was performed. Through a left posterolateral thoracotomy (fifth space), a moderately hypothermic beating heart cardiopulmonary bypass was established between the right atrial appendage and the ascending aorta. The aneurysm was resected, and an end-to-end aortic anastomosis was performed (clamping time, 32 minutes). No complications occurred. The histologic description was consistent with ATS. At 9 months after surgery, chest computed tomographic scan shows an excellent anatomic result (Fig 2) in a patient free of symptoms. Arterial tortuosity syndrome is an autosomal recessive rare condition characterized by tortuosity, stenosis, and aneurysm formation in the major arteries. The high risk of aneurysm rupture in ATS led us to perform surgery in infancy. The surgeons took advantage of the elasticity and tortuosity of the remaining descending aorta to avoid the use of a prosthetic material in this growing infant. This autologous tissue technique could have allowed the patient to be operated on even earlier. Mid-term prognosis will essentially depend on other ATS-related cardiovascular complications, which warrant a lifelong follow-up.