Taweevisit Mana, Thorner Paul
a Pathology, Faculty of Medicine , Chulalongkorn University , Bangkok , Thailand.
b University of Toronto , Laboratory Medicine and Pathobiology , Toronto , Ontario , Canada.
Fetal Pediatr Pathol. 2019 Feb;38(1):14-29. doi: 10.1080/15513815.2018.1546355. Epub 2019 Jan 11.
Congenital heart defects (CHDs) carry significant morbidity and mortality in pediatric patients. This study determined the spectrum of CHDs based on fetal and pediatric autopsies.
Autopsy reports over a 15-year period were reviewed. Postmortem findings were correlated with echocardiography records.
From 608 autopsies, 119 cases with CHDs were identified (11% of fetal, 53% of neonatal, 18% of infant, and 4.5% of childhood autopsies). Persistent left superior vena cava was the most common individual defect. 41% of cases had extracardiac malformations. 18.5% of cases had chromosomal abnormalities. Prenatal echocardiography was available in 52 cases, showing 85% correlation with autopsy findings. Defects missed by echocardiography were generally of mild severity.
Postmortem examination is important to delineate the anatomy of CHDs, and recognize extracardiac malformations for identification of possible genetic syndromes. This information can be used for parental counseling and for assessment of accuracy of pre-mortem imaging studies.
先天性心脏病(CHD)在儿科患者中具有较高的发病率和死亡率。本研究基于胎儿和儿科尸检确定了CHD的谱系。
回顾了15年间的尸检报告。将尸检结果与超声心动图记录进行关联。
在608例尸检中,确诊119例CHD(胎儿尸检的11%、新生儿尸检的53%、婴儿尸检的18%、儿童尸检的4.5%)。永存左上腔静脉是最常见的单一缺陷。41%的病例伴有心外畸形。18.5%的病例存在染色体异常。52例病例有产前超声心动图检查结果,与尸检结果的相关性为85%。超声心动图漏诊的缺陷通常严重程度较轻。
尸检对于明确CHD的解剖结构以及识别心外畸形以确定可能的遗传综合征很重要。这些信息可用于向家长提供咨询,并评估生前影像学检查的准确性。