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  • 标题:Truncus arteriosus communis: report of three cases and review of literature
  • 本地全文:下载
  • 作者:Henriette Poaty ; Fanny Pelluard ; Gwenaelle André
  • 期刊名称:African Health Sciences
  • 印刷版ISSN:1680-6905
  • 电子版ISSN:1729-0503
  • 出版年度:2018
  • 卷号:18
  • 期号:1
  • 页码:147-156
  • 出版社:Makerere University Medical School(Uganda)
  • 摘要:

    Background: Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk.

    Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins.

    Methods: We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH).

    Results: Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal.

    Conclusion: Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity.

  • 关键词:Truncus arteriosus; conotruncal heart malformation; congenital heart defect; genetic etiologies.
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