Autoptic and echocardiographic findings in seven foetuses with congenital heart anomalies, lung lobation defects and normal visceroatrial arrangement

Francesca Angiero, V. Feslova, T. Rizzuti, M. Stefani

Research output: Contribution to journalArticle

Abstract

Objectives. Congenital heart defects may be associated with various extracardiac and chromosomal anomalies, and complex cardiac defects may occur in the presence of heterotaxy syndromes, in which both lungs are bilobate, in left isomerism, or both trilobate, in right isomerism. Lung lobation defects are otherwise very rare. Lung lobation is recognisable only at autopsy; however, its definition is fundamental for evaluation of the visceroatrial arrangement, together with other characteristic signs. Method. We report seven cases of congenital heart defects diagnosed prenatally at 14-31 weeks of gestation (wg), 5 females and 2 males, in which autopsy revealed lung lobation defects in the presence of normal visceroatrial arrangement, in association with other extracardiac anomalies or dysmorphism. Results. Three foetuses had hypoplastic left heart syndrome, one had corrected transposition of great arteries, one had tricuspid atresia, one Ebstein's anomaly and one had ventricular septal defect in trisomy 21. In six cases, pregnancy had been terminated, while the foetus with Ebstein's anomaly died in utero at 32 wg for supraventricular tachycardia. Monolobate, bilobate, trilobate and quadrilobate lungs were found in these foetuses, together with other minor extracardiac anomalies or dysmorphism. Conclusions. Autoptic analysis in cases with prenatal diagnosisis needed to confirm echographic findings and reveal other minor anomalies, undetectable by ultrasound imaging that may complete the malformation pattern, which is useful to the couple for genetic counselling.

Original languageEnglish
Pages (from-to)53-60
Number of pages8
JournalPathologica
Volume103
Issue number3
Publication statusPublished - Jun 2011

Keywords

  • Autoptic examination
  • Congenital heart anomalies
  • Extracardiac anomalies
  • Foetal echocardiography
  • Lung lobation defects
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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