PDF(Pubmed)
Abstract：
BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events.
METHODS: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg.
CONCLUSIONS: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.
METHODS: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg.
CONCLUSIONS: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.
摘要：
背景：动脉弯曲综合征是一种罕见的常染色体隐性遗传疾病，可导致身体结缔组织功能丧失，这是由于溶质载体家族2成员10（SLC2A10）基因的突变。ATS更可能发生在包括主动脉和肺动脉在内的大中型动脉中。这种综合征导致动脉拉长和弯曲，这种曲折扰乱血液循环，导致狭窄和缺乏流向器官的血液，这种慢性湍流增加了动脉瘤发展的风险。解剖和缺血事件。
方法：一名2岁的阿拉伯女性儿童在新生儿时被诊断出患有影响肺动脉的ATS，由于肺动脉狭窄的发展，在2岁时接受了肺动脉外科重建，左肺动脉的峰值梯度为73mmHg，峰值速度为4.3m/s，右肺动脉的峰值梯度为46mmHg，峰值速度为3.4m/s，导致右心室高血压。手术修复后，左肺动脉的峰值压力梯度为20mmHg，右肺动脉的峰值压力梯度为20mmHg。
结论：ATS是一种罕见的遗传病，影响大动脉，尤其是肺动脉，引起狭窄和曲折的血管，这些血管可能是中央分支或远端外周分支，导致严重的右心室功能障碍和高血压。我们认为，与经导管入路相比，尤其是在涉及外周动脉时，手术治疗可提供最佳结果。一些挑战和打嗝可能会发生，尤其是肺再灌注损伤，需要进行相应的诊断和治疗。
方法：一名2岁的阿拉伯女性儿童在新生儿时被诊断出患有影响肺动脉的ATS，由于肺动脉狭窄的发展，在2岁时接受了肺动脉外科重建，左肺动脉的峰值梯度为73mmHg，峰值速度为4.3m/s，右肺动脉的峰值梯度为46mmHg，峰值速度为3.4m/s，导致右心室高血压。手术修复后，左肺动脉的峰值压力梯度为20mmHg，右肺动脉的峰值压力梯度为20mmHg。
结论：ATS是一种罕见的遗传病，影响大动脉，尤其是肺动脉，引起狭窄和曲折的血管，这些血管可能是中央分支或远端外周分支，导致严重的右心室功能障碍和高血压。我们认为，与经导管入路相比，尤其是在涉及外周动脉时，手术治疗可提供最佳结果。一些挑战和打嗝可能会发生，尤其是肺再灌注损伤，需要进行相应的诊断和治疗。
