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African Health Sciences
Makerere University Medical School
ISSN: 1680-6905
EISSN: 1729-0503
Vol. 18, No. 1, 2018, pp. 147-156
Bioline Code: hs18019
Full paper language: English
Document type: Literature Review
Document available free of charge

African Health Sciences, Vol. 18, No. 1, 2018, pp. 147-156

 en Truncus arteriosus communis: report of three cases and review of literature
Poaty, Henriette; Pelluard, Fanny; André, Gwenaelle; Maugey-Laulom, Brigitte & Carles, Dominique

Abstract

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.

Keywords
Truncus arteriosus; conotruncal heart malformation; congenital heart defect; genetic etiologies.

 
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