Anomalous Fusion of Right Pulmonary Artery to Aortic Arch: Case Report of a Rare and Fatal Congenital Malformation in a Newborn and a Literature Review

Overview

Journal Am J Case Rep

Specialty General Medicine

Date 2018 Nov 29

PMID 30482890

Authors

Cristian DOvidio

Lidia Decembrino

Mauro Stronati

Aldo Carnevale

Rossano Lattanzio

Affiliations

Soon will be listed here.

Abstract

BACKGROUND We present a report of a rare cardiac malformation case as well as a review of the literature. In addition, the diagnostic features are discussed. CASE REPORT The case of a female newborn who died on her third day of life was studied at the Institute of Legal Medicine, University of Chieti-Pescara (Italy). The investigations around her death revealed a cardiac congenital malformation, seen as a rare variant of a common arterial trunk, in which the aorta was fused with the right branch of the pulmonary artery. The ascending aorta showed hypoplasia, while the coronary arteries were free of any pathological findings. The atrial septum showed a closed foramen ovale and the ventricular septum did not show any defect. Only an isolated right ventricular hypertrophy and dilation with no other cardiac abnormalities was found. The cause of death was acute respiratory failure on the third day of extrauterine life when the ductus Botalli closed. The karyotype analysis performed in this case was normal, and the fluorescent in situ hybridization analysis did not show the 22q11.2 microdeletion suggestive of the DiGeorge syndrome. CONCLUSIONS These findings underline the value of 3-dimensional/4-dimensional ultrasound imaging when added to a fetal cardiology screening program, and the need for improvements in postnatal screening routines by using pulse oximetry in order to discover isolated vascular defects before circulatory collapse occurs, as well as to reduce the medico-legal disputes in cases of missed diagnosis. We found the relevant literature search lacked a description of this congenital malformation, which supports our deeper perinatal investigation.

References

Jacobs M . Congenital Heart Surgery Nomenclature and Database Project: truncus arteriosus. Ann Thorac Surg. 2000; 69(4 Suppl):S50-5. DOI: 10.1016/s0003-4975(99)01320-x. View

Jung M, Yoo S . Prenatal diagnosis of anomalous origin of the right pulmonary artery from the ascending aorta. Cardiol Young. 2002; 12(2):186-8. DOI: 10.1017/s1047951102000392. View

Volpe P, Paladini D, Marasini M, Buonadonna A, Russo M, Caruso G . Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases. Heart. 2003; 89(12):1437-41. PMC: 1767971. DOI: 10.1136/heart.89.12.1437. View

Prifti E, Bonacchi M, Murzi B, Crucean A, Leacche M, Bernabei M . Anomalous origin of the right pulmonary artery from the ascending aorta. J Card Surg. 2004; 19(2):103-12. DOI: 10.1111/j.0886-0440.2004.04023.x. View

Radha A, Dharan B, Kumar R, Rao S . Anomalous origin of left coronary artery from right pulmonary artery in an infant with coarctation of the aorta. Ann Thorac Surg. 2004; 78(1):324-6. DOI: 10.1016/S0003-4975(03)01469-3. View

Harris R . Obstetrics. 22q11 deletion syndrome with truncus arteriosus, hypoplastic left ventricle, VSD, clubfoot, sandal toes, cleft palate, butterfly vertebrae. Ultrasound Q. 2005; 21(2):107-8, 125-6. View

Carretero J, Rissech M, Mortera C, Mayol J, Caffarena J, Prada F . [Aortic origin of the left pulmonary artery in an infant with Fallot's tetralogy]. Rev Esp Cardiol. 2005; 58(9):1124-6. View

Tlaskal T, Hucin B, Kucera V, Vojtovic P, Gebauer R, Chaloupecky V . Repair of persistent truncus arteriosus with interrupted aortic arch. Eur J Cardiothorac Surg. 2005; 28(5):736-41. DOI: 10.1016/j.ejcts.2005.08.014. View

Knowles R, Griebsch I, Dezateux C, Brown J, Bull C, Wren C . Newborn screening for congenital heart defects: a systematic review and cost-effectiveness analysis. Health Technol Assess. 2005; 9(44):1-152, iii-iv. DOI: 10.3310/hta9440. View

10.

Elzein C, Ilbawi M, Kumar S, Ruiz C . Severe truncal valve stenosis: diagnosis and management. J Card Surg. 2005; 20(6):589-93. DOI: 10.1111/j.1540-8191.2005.00124.x. View

11.

Konstantinov I, Karamlou T, Blackstone E, Mosca R, Lofland G, Caldarone C . Truncus arteriosus associated with interrupted aortic arch in 50 neonates: a Congenital Heart Surgeons Society study. Ann Thorac Surg. 2005; 81(1):214-22. DOI: 10.1016/j.athoracsur.2005.06.072. View

12.

Espinoza J, Kusanovic J, Goncalves L, Nien J, Hassan S, Lee W . A novel algorithm for comprehensive fetal echocardiography using 4-dimensional ultrasonography and tomographic imaging. J Ultrasound Med. 2006; 25(8):947-56. PMC: 1800884. DOI: 10.7863/jum.2006.25.8.947. View

13.

Blake K, Prasad C . CHARGE syndrome. Orphanet J Rare Dis. 2006; 1:34. PMC: 1586184. DOI: 10.1186/1750-1172-1-34. View

14.

Espinoza J, Hassan S, Gotsch F, Kusanovic J, Lee W, Erez O . A systematic approach to the use of the multiplanar display in evaluation of abnormal vascular connections to the fetal heart using 4-dimensional ultrasonography. J Ultrasound Med. 2007; 26(11):1461-7. PMC: 2678920. DOI: 10.7863/jum.2007.26.11.1461. View

15.

COLLETT R, Edwards J . Persistent truncus arteriosus; a classification according to anatomic types. Surg Clin North Am. 1949; 29(4):1245-70. DOI: 10.1016/s0039-6109(16)32803-1. View

16.

Henaine R, Azarnoush K, Belli E, Capderou A, Roussin R, Planche C . Fate of the truncal valve in truncus arteriosus. Ann Thorac Surg. 2007; 85(1):172-8. DOI: 10.1016/j.athoracsur.2007.07.039. View

17.

Kajihara N, Imoto Y, Sakamoto M, Ochiai Y, Kan-O M, Joo K . Surgical results of anomalous origin of the right pulmonary artery from the ascending aorta including reoperation for infrequent complications. Ann Thorac Surg. 2008; 85(4):1407-11. DOI: 10.1016/j.athoracsur.2007.11.081. View

18.

Carotti A, Digilio M, Piacentini G, Saffirio C, Di Donato R, Marino B . Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev. 2008; 14(1):35-42. DOI: 10.1002/ddrr.6. View

19.

Oztunc F, Guzeltas A . Prenatal diagnosis of anomalous origin of the right pulmonary artery from the ascending aorta with hypoplastic right ventricle and pulmonary stenosis. Ultrasound Obstet Gynecol. 2008; 32(4):592-3. DOI: 10.1002/uog.4076. View

20.

Swanson T, Tierney E, Tworetzky W, Pigula F, McElhinney D . Truncus arteriosus: diagnostic accuracy, outcomes, and impact of prenatal diagnosis. Pediatr Cardiol. 2008; 30(3):256-61. PMC: 4227613. DOI: 10.1007/s00246-008-9328-7. View