Department of Pediatrics, University Hospital Ostrava and Faculty of Medicine, Ostrava University, Ostrava, Czech Republic.
Biomedical Research Center, University Hospital Hradec Kralove, Hradec Kralove, Czech Republic.
BMC Pediatr. 2021 Nov 30;21(1):528. doi: 10.1186/s12887-021-02997-2.
Severe or critical congenital heart defects (CHDs) constitute one third of the heart defect cases detected only after birth. These prenatally unrecognised defects usually manifest as cyanotic or acyanotic lesions and are diagnosed postnatally at various times. The aim of the study was to identify their clinical symptoms and determine individual risk periods for CHD manifestation.
Data were assessed retrospectively based on a cohort of patients born between 2009 and 2018 in a population of 175,153 live births. Occurrence of the first symptoms of CHD was classified into: early neonatal (0-7 days), late neonatal (8-28 days), early infancy (1-6 months), or late infancy (6-12 months). The first symptom for which the child was referred to a paediatric cardiologist was defined as a symptom of CHD.
There were 598 major CHDs diagnosed in the studied region, 91% of which were isolated anomalies. A concomitant genetic disorder was diagnosed in 6% of the cases, while 3% presented extracardiac pathology with a normal karyotype. In total, 47% (282/598) of all CHDs were not identified prenatally. Of these, 74% (210/282) were diagnosed as early neonates, 16% (44/282) as late neonates, and 10% (28/282) as infants. The most common symptoms leading to the diagnosis of CHD were heart murmur (51%, 145/282) and cyanosis (26%, 73/282). Diagnosis after discharge from the hospital occurred in 12% (72/598) of all major CHDs. Ventricular septal defect and coarctation of the aorta constituted the majority of delayed diagnoses.
In conclusion, murmur and cyanosis are the most common manifestations of prenatally undetected CHDs. Although most children with major CHDs are diagnosed as neonates, some patients are still discharged from the maternity hospital with an unidentified defect.
严重或危急的先天性心脏缺陷（CHD）占出生后才被发现的心脏缺陷病例的三分之一。这些产前未被识别的缺陷通常表现为发绀或非发绀病变，并在出生后不同时间被诊断。本研究的目的是确定其临床症状，并确定 CHD 表现的个体风险期。
基于在 175153 例活产儿中出生于 2009 年至 2018 年的队列，对数据进行回顾性评估。将 CHD 的第一个症状发生时间分类为：新生儿早期（0-7 天）、新生儿晚期（8-28 天）、婴儿早期（1-6 个月）或婴儿晚期（6-12 个月）。将患儿首次被转介至儿科心脏病专家的症状定义为 CHD 的症状。
在所研究的地区共诊断出 598 例主要 CHD，其中 91%为孤立性异常。6%的病例被诊断出同时存在遗传疾病，3%的病例存在伴正常核型的心脏外病理学。总共，47%（282/598）的所有 CHD 在产前未被识别。其中，74%（210/282）在新生儿早期被诊断，16%（44/282）在新生儿晚期被诊断，10%（28/282）在婴儿期被诊断。导致 CHD 诊断的最常见症状是心脏杂音（51%，145/282）和发绀（26%，73/282）。所有主要 CHD 中有 12%（72/598）在出院后被诊断。室间隔缺损和主动脉缩窄构成了大部分延迟诊断的主要内容。
总之，杂音和发绀是产前未被发现的 CHD 的最常见表现。尽管大多数患有严重 CHD 的儿童在新生儿期被诊断，但仍有一些患儿出院时存在未被识别的缺陷。
