Dong Shu-Wen, Di Duo-Duo, Cheng Guan-Xun
Medical Imaging Department, Peking University Shenzhen Hospital, Shenzhen 518000, Guangdong Province, China.
World J Clin Cases. 2021 Feb 6;9(4):992-998. doi: 10.12998/wjcc.v9.i4.992.
Interrupted aortic arch (IAA) is a rare congenital heart disease defined by an interruption of the lumen and anatomical continuity between the ascending and descending major arteries. It is usually found within a few hours or days of birth. Without surgery, the chances of survival are low. If IAA patients have an effective collateral circulation established, they can survive into adulthood. However, IAA in adults is extremely rare, with few reported cases.
A 27-year-old woman presented with a 6-year history of progressively worsening shortness of breath and chest tightness on exertion. She had cyanotic lips and clubbing of the fingers. A transthoracic echocardiogram revealed an enlarged heart and dilation of the main pulmonary artery. There was an abnormal 9 mm passage between the descending aorta and pulmonary artery. The ventricular septal outflow tract had a 14 mm defect. Doppler ultrasound suggested a patent ductus arteriosus and computed tomographic angiography showed the absence of the aortic arch. The diagnoses were ventricular septal defect, patent ductus arteriosus, and definite interruption of the aortic arch. Although surgical correction was recommended, the patient declined due to the surgical risks and was treated with medications to reduce pulmonary artery pressure and treat heart failure. Her condition has been stable for 12 mo of follow-up.
Although rare, IAA should be considered in adults with refractory hypertension or unexplained congestive heart failure.
主动脉弓中断（IAA）是一种罕见的先天性心脏病，其定义为升主动脉和降主动脉之间的管腔中断及解剖连续性中断。它通常在出生后的数小时或数天内被发现。未经手术治疗，存活几率较低。如果IAA患者建立了有效的侧支循环，他们可以存活至成年期。然而，成人IAA极为罕见，报道的病例很少。
一名27岁女性，有6年劳力性呼吸困难和胸闷进行性加重的病史。她有口唇发绀和手指杵状指。经胸超声心动图显示心脏增大和主肺动脉扩张。降主动脉和肺动脉之间有一条9毫米的异常通道。室间隔流出道有一个14毫米的缺损。多普勒超声提示动脉导管未闭，计算机断层血管造影显示主动脉弓缺如。诊断为室间隔缺损、动脉导管未闭和明确的主动脉弓中断。尽管建议进行手术矫正，但患者因手术风险而拒绝，接受了降低肺动脉压力和治疗心力衰竭的药物治疗。随访12个月，她的病情一直稳定。
尽管罕见，但对于难治性高血压或不明原因的充血性心力衰竭的成人患者，应考虑IAA。
