Truncus arteriosus communis: report of three cases and review of literature
Henriette Poaty1,2, Fanny Pelluard3, Gwenaelle André3
1Histology-Embryology and Genetic Laboratory, Faculty of Health Sciences, BP 2672, Marien Ngouabi University, Brazzaville, Congo.
Insights
Truncus arteriosus is a rare congenital heart defect with diverse genetic causes. Early prenatal diagnosis and postmortem examination aid in understanding and counseling for this condition.
Area of Science:
- Cardiology
- Medical Genetics
- Prenatal Diagnosis
Background:
- Truncus arteriosus communis (TAC) is a rare congenital heart defect.
- It involves the failure of the embryonic arterial trunk to divide into the aorta and pulmonary artery.
Observation:
- Three fetal cases of TAC were analyzed.
- Diagnoses utilized echocardiography, radiography, arteriography, fetal autopsy, karyotype, and FISH analysis.
- Two cases involved medical termination due to severe cardiopathy.
Findings:
- TAC types 3 and 4 (Van Praagh classification) were identified.
- One fetus showed a 22q11.2 deletion, indicative of DiGeorge syndrome.
- Karyotype analysis was normal in two cases.
Implications:
- TAC has multiple etiologies, frequently with genetic origins.
- Prenatal diagnosis is feasible.
- Fetopathological examination and genetic counseling are crucial for recurrent cases and consanguinity.
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.
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