Department of Paediatric Cardiology, Perth Children's Hospital, Perth, WA, Australia.
Department of Maternal Fetal Medicine, King Edward Memorial Hospital, Perth, WA, Australia; Division of Obstetrics and Gynaecology, Faculty of Health and Medical Sciences, The University of Western Australia, Perth, WA, Australia.
Heart Lung Circ. 2023 Jun;32(6):735-744. doi: 10.1016/j.hlc.2023.03.009. Epub 2023 Apr 13.
Vascular rings, including right aortic arch with aberrant left subclavian artery (RAA-ALSCA), double aortic arch (DAA) and pulmonary artery sling (PAS), are congenital anomalies that may cause airway and oesophageal compression. As prenatal detection has improved, literature comparing clinical outcomes of antenatally versus postnatally diagnosed cases continues to emerge. The aim is to define a statewide tertiary paediatric institution's clinical profile and outcomes of prenatal versus postnatally diagnosed isolated vascular rings.
A retrospective single-centre review of isolated RAA-ALSCA, DAA and PAS between 1 January 1999 and 31 December 2020 was conducted. Clinical characteristics, surgical and follow-up information were collected. Antenatal and postnatally diagnosed groups were compared.
Out of 123 cases diagnosed with isolated vascular rings, 98 (79.7%) cases had RAA-ALSCA, 21 (17.1%) with DAA, 4 (3.3%) with PAS. The antenatal detection rate was 73.6% in the past decade; 20.3% had a genetic disorder, of which 48% had 22q11.21 microdeletion. Of prenatally diagnosed cases, 31.3% developed symptoms, commonly stridor and dysphagia, at a median age of 2.0 months (IQR 0.0-3.0), compared to a median age of diagnosis for the postnatal cohort of 9 months (IQR 1.0-40.7). Postnatally diagnosed cases were more likely to present with symptoms, primarily respiratory distress, than prenatally diagnosed cases (p=0.006). Fifty-nine (59) cases (50% antenatally diagnosed) required vascular ring division; 6.8% had residual symptoms following surgery.
Antenatal diagnosis has improved and leads to better parental awareness and more timely, appropriate intervention. Postnatally diagnosed patients were older, more likely to be symptomatic, underwent more investigations and were commenced on more medications for symptom management prior to diagnosis. One in five cases of isolated vascular ring anomalies carried a genetic diagnosis, which has important implications on prenatal counselling and genetic testing.
血管环，包括右主动脉弓伴左锁骨下动脉异常（RAA-ALSCA）、双主动脉弓（DAA）和肺动脉吊带（PAS），是可能导致气道和食管压迫的先天性异常。随着产前检测的提高，比较产前和产后诊断病例的临床结果的文献不断出现。目的是定义一个全州性的三级儿科机构的临床特征和产前与产后诊断的孤立性血管环的结果。
对 1999 年 1 月 1 日至 2020 年 12 月 31 日期间诊断的孤立性 RAA-ALSCA、DAA 和 PAS 进行回顾性单中心研究。收集临床特征、手术和随访信息。比较产前和产后诊断组。
在 123 例诊断为孤立性血管环的患者中，98 例（79.7%）为 RAA-ALSCA，21 例（17.1%）为 DAA，4 例（3.3%）为 PAS。过去十年中，产前检出率为 73.6%；20.3%有遗传疾病，其中 48%有 22q11.21 微缺失。在产前诊断的病例中，31.3%在中位年龄为 2.0 个月（IQR 0.0-3.0）时出现症状，常见的是喘鸣和吞咽困难，而产后诊断的病例的中位年龄为 9 个月（IQR 1.0-40.7）。与产前诊断的病例相比，产后诊断的病例更有可能出现症状，主要是呼吸窘迫（p=0.006）。59 例（50%产前诊断）需要血管环分离；6.8%手术后仍有残留症状。
产前诊断有所改善，导致更好的父母意识和更及时、适当的干预。产后诊断的患者年龄较大，更有可能出现症状，在诊断前进行了更多的检查，并开始使用更多的药物来控制症状。五分之一的孤立性血管环异常病例有遗传诊断，这对产前咨询和基因检测有重要意义。
