A congenital cyanotic heart defect such as Truncus Arteriosus (TA) is rare and is represented by a single arterial trunk that develops from the heart and gives rise to the pulmonary trunk in several manners. TA comprises 0.7% of all complex congenital heart malformations caused by numerous aetiologies, with the majority being genetic in origin. This malformation can be recognised in the prenatal period so that further medical intervention can be advocated. There are four types of the defect based on the Collett-Edwards classification. Type 4 is a rare form in which the pulmonary arteries are non-existent. Therefore, the lungs are supplied by major aortopulmonary collateral arteries. It may also describe this anatomical picture as pulmonary atresia with VSD. We report here a unique case of truncus arteriosus type 4 in an apparently well-thriving and acyanotic 6-month-old male infant. The deceased was presented with a brief history of inconsolable cry shortly before his demise and the underlying cardiac abnormalities were discovered at autopsy. A meticulous post-mortem examination elucidates a better diagnosis approach. Genetic counselling can be offered to parents in recurrent cases, such as cases of consanguinity.
A. Cifareli and L. Ballerini, “Truncus Arteriosus,” Pediatric cardiology 24: 569-73, 2003.
P. Volpe, D. Paladini, M. Marasini, A. L. Buonadonna, M. G. Russo, G. Caruso and M. Gentile, “Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases,” Heart, 89(12), 1437-1441, 2003.
D. Verhaert, J. Arruda, P. Thavendiranathan, C. S. Cook and V. S. Raman, “Truncus arteriosus with aortic arch interruption:cardiovascular magnetic resonance findings in the unrepaired adult,” Journal of Cardiovascular Magnetic Resonance 12:16, 2010.
B. Doff and M. D. McElhinney, 2012, “Truncus Arteriosus pathophysiology&management,” Medscape. http://emedicine.medscape.com/article/892489-overview.
J. M. Williams, M. de Leeuw, M. D. Black, R. M. Freedom, W. G. Williams and B. W. Mc Crindle, “Factors associated with outcomes of persistent truncus arteriosus,” J Am Coll Cardiol 34:545‐53, 1999.
E. Braunwald, P. D. Zipes and P. Libby Heart Disease 6th Ed. WB Saunders, 1536-7, 2001.
H. A. Rajasinghe, D. B. McElhinney, V. M. Reddy, B. N. Mora and F. L. Hanley, “Long-term follow-up of truncus arteriosus repaired in infancy: a twenty-year experience,” J Thorac Cardiovasc Surg 113:869-878, 1997.
J. F. N. Taylor, E. Moller, H. James and J. Hoffman, “Persistent truncus arteriosus,” Pediatric Cardiovascular Medicine Philadelphia: Churchill Livingstone 499-510, 2000.
This work is licensed under a Creative Commons Attribution 4.0 International License.