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Truncus arteriosus communis: report of three cases and review of literature
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 revie...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Makerere Medical School
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016971/ https://www.ncbi.nlm.nih.gov/pubmed/29977268 http://dx.doi.org/10.4314/ahs.v18i1.19 |
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author | Poaty, Henriette Pelluard, Fanny André, Gwenaelle Maugey-Laulom, Brigitte Carles, Dominique |
author_facet | Poaty, Henriette Pelluard, Fanny André, Gwenaelle Maugey-Laulom, Brigitte Carles, Dominique |
author_sort | Poaty, Henriette |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6016971 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Makerere Medical School |
record_format | MEDLINE/PubMed |
spelling | pubmed-60169712018-07-05 Truncus arteriosus communis: report of three cases and review of literature Poaty, Henriette Pelluard, Fanny André, Gwenaelle Maugey-Laulom, Brigitte Carles, Dominique Afr Health Sci Articles 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. Makerere Medical School 2018-03 /pmc/articles/PMC6016971/ /pubmed/29977268 http://dx.doi.org/10.4314/ahs.v18i1.19 Text en © 2018 Poaty et al. Licensee African Health Sciences. This is an Open Access article distributed under the terms of the Creative commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Articles Poaty, Henriette Pelluard, Fanny André, Gwenaelle Maugey-Laulom, Brigitte Carles, Dominique Truncus arteriosus communis: report of three cases and review of literature |
title | Truncus arteriosus communis: report of three cases and review of literature |
title_full | Truncus arteriosus communis: report of three cases and review of literature |
title_fullStr | Truncus arteriosus communis: report of three cases and review of literature |
title_full_unstemmed | Truncus arteriosus communis: report of three cases and review of literature |
title_short | Truncus arteriosus communis: report of three cases and review of literature |
title_sort | truncus arteriosus communis: report of three cases and review of literature |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016971/ https://www.ncbi.nlm.nih.gov/pubmed/29977268 http://dx.doi.org/10.4314/ahs.v18i1.19 |
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