Arvanitaki Alexandra, Januszewska Katarzyna, Malec Edward, Baumgartner Helmut, Kehl Hans-Gerd, Lammers Astrid Elisabeth
Division of Cardiology III-Adult Congenital and Valvular Heart Disease, University Hospital Muenster, Albert-Schweitzer-Campus 1, 48149 Muenster, Germany.
Adult Congenital Heart Centre and National Centre for Pulmonary Hypertension, Royal Brompton and Harefield NHS Foundation Trust, Sydney Street, SW3 6NP London, UK.
Eur Heart J Case Rep. 2021 Jul 18;5(7):ytab234. doi: 10.1093/ehjcr/ytab234. eCollection 2021 Jul.
Children with congenital heart defects (CHD) usually undergo elective surgical repair of haemodynamically relevant shunt lesions within the first year of life. Due to susceptibility for pulmonary arterial hypertension (PAH) in patients with Down syndrome, repair is usually aimed for no later than 6 months of life. However, with rising immigration from developing countries to Europe, more patients with unrepaired CHD are diagnosed at a later age. Anatomical repair may be precluded, when advanced pulmonary vascular disease has been established.
We report a 39-month-old male patient with Down syndrome with a large non-restrictive perimembranous ventricular septal defect, a large patent ductus arteriosus, and a secundum-type atrial septal defect with a prominent left-to-right shunting. Haemodynamic assessment revealed only a mild increase of pulmonary artery pressures (mPAP) with low pulmonary vascular resistance index (PVRi). Vasodilator testing led to a further increase of the left-to-right shunt and decrease of PVRi, suggesting operability. After careful consideration, the patient underwent complete surgical repair with a good post-operative clinical outcome. Cardiac catheterization 6 months after corrective repair showed a normal mPAP. No signs of PAH have been detected in the medium-term follow-up.
Expertise, increased physician awareness, and a thorough pre-operative multidisciplinary evaluation are paramount to determine the best treatment approach for patients, who may present late with multiple shunts, and-in our case-underlying Down syndrome. Long-term close post-surgical follow-up in an expert centre is warranted to promptly diagnose and treat a possible late presentation of PAH appropriately.
患有先天性心脏病（CHD）的儿童通常在出生后第一年内接受对血流动力学有影响的分流病变的择期手术修复。由于唐氏综合征患者易患肺动脉高压（PAH），修复手术通常旨在不晚于6个月时进行。然而，随着从发展中国家向欧洲移民人数的增加，更多未修复CHD的患者在较晚年龄被诊断出来。当已出现晚期肺血管疾病时，可能无法进行解剖修复。
我们报告一名39个月大的唐氏综合征男性患者，患有大型非限制性膜周部室间隔缺损、大型动脉导管未闭和继发孔型房间隔缺损，伴有明显的左向右分流。血流动力学评估显示肺动脉压（mPAP）仅轻度升高，肺血管阻力指数（PVRi）较低。血管扩张剂测试导致左向右分流进一步增加，PVRi降低，提示可手术。经过仔细考虑，该患者接受了完全手术修复，术后临床结果良好。矫正修复6个月后的心脏导管检查显示mPAP正常。中期随访未发现PAH迹象。
专业知识、提高医生意识以及全面的术前多学科评估对于确定可能因多种分流而就诊较晚的患者（如我们病例中的唐氏综合征患者）的最佳治疗方法至关重要。在专家中心进行长期密切的术后随访，以及时诊断并适当治疗PAH可能的晚期表现是必要的。
