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Prenatal diagnosis of the fetal common arterial trunk. A case series

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DOI:

Case report

DOI: 10.11152/mu-1084

Prenatal diagnosis of the fetal common arterial trunk. A case series

Claudiu Mărginean

1

, Liliana Gozar

2

, Cristina Oana Mărginean

3

, Horațiu Suciu

4

, Rodica Togănel

2

, Iolanda Muntean

2

, Maria Cezara Mureșan

5

1Pediatrics Cardiology Department, University of Medicine and Pharmacy Tg.Mureș, 2Ginecology Department, University of Medicine and Pharmacy Tg.Mureș, 3Pediatrics I Department, University of Medicine and Pharmacy Tg.Mureș, 4Cardiology Surgery Department,University of Medicine and Pharmacy Tg.Mureș, 5Gynecology Depart- ment, University of Medicine and Pharmacy Victor Babeș Timișoara, Romania

Received 25.04.2017 Accepted 26.06.2017 Med Ultrason

2018, Vol. 20, No 1, 100-104 Corresponding author: Liliana Gozar

Department of Pediatrics Cardiology University of Medicine and Pharmacy 38 Gheorghe Marinescu Street 540139 Tîrgu Mureș, Romania

Phone: +40-743-030679, Fax: +40-265-211098 E-mail: [email protected]

Introduction

Fetal common arterial trunk (CAT) is a congeni- tal anomaly represented by a unique arterial trunk that arouses from the base of the heart, gives birth to systemic branches, both pulmonary and coronary, being frequently associated with a ventricular septal defect (VSD). This fetal anomaly carries a poor prognosis, and, according to Collett et al [1] CAT is divided into 4 types: type 1 – pul- monary trunk, with two branches that originate from the truncus arteriosus; type 2 – branches originating from the same level of truncus arteriosus (posteriorly); type 3 – the branches originate from different levels of the same trun- cus arteriosus (laterally); and type 4 – branches originate from the descending aorta or the aortic arc (newly called

atresia of the pulmonary valve with VSD). The classifica- tion of Van Praaghet al [2] comprises: type A1 with par- tially separated pulmonary trunk; A2 with 2 branches that originate separately directly from the truncus arteriosus;

A3 with a single pulmonary branch that originates directly from the truncus arteriosus and collateral vessels from the descending aorta; and A4 consist of anomalies of the aortic arc associated with truncus arteriosus. The classification of the Society of Thoracic Surgeons admits only 3 types of CAT from the classification of Van Praagh – aortic domi- nant, non-confluent type, and pulmonary dominant [3].

Prenatal diagnosis and follow-up of CAT is impor- tant due to the frequent association with other intracar- diac abnormalities or complications such as truncal valve stenosis and insufficiency, which lead to cardiac failure, hydrops, and intrauterine death [4]. The survival of CAT in infancy is possible only with a correct surgical cor- rection [1]. In addition, O’Byrne underlined that patients with CAT and reconstructive surgery presented important associated comorbidities, multiple re-interventions on catheter, a poor life quality, and deficit in exercise per- formance and in functional status [5]. The most frequent CAT is type 1 with a percentage of 60%, followed by type 2 with 35%, and type 3 and 4 with 5% [6].

Abstract

Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

Keywords: common arterial trunk (CAT); intrauterine diagnosis; evaluation; prognosis

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The aim of our study was to assess the correct diag- nosis of the fetal CAT type, the gestational age at the time of the diagnosis, the anomaly’s associations and also the fetal and neonatal evolution in our series of cases.

Material and method

We performed a prospective descriptive study on 17 fetuses diagnosed in our tertiary center with CAT be- tween February 2009 and April 2017. During this period, 621 pregnant women were referred to our center with the suspicion of fetal cardiac anomalies and 411 were con- firmed, 17 of them having CAT. The 17 fetuses included in this group (4.13% from all structural cardiac anoma- lies) were diagnosed at a gestational age ranging between 15 and 36 weeks, among which only 12 of them had a gestational age lower than 24 weeks.

Echocardiographic examination

The fetal echocardiography was performed by a team with experience regarding fetal and neonatal car- diac anomalies, using Voluson 730 Pro (General Elec- tric) or Voluson E8 Expert ultrasound machine with a RAB 4-8 MHz abdominal transducer. Data such as trun- cal valve regurgitation, type of pulmonary vessels emer- gency from a unique vessel and their prognostic impli- cations were assessed. Ultrasound signs of other fetal anomalies were also evaluated within this group. Each pregnant woman was counseled by a pediatric cardiolo- gist and a surgeon specialist in newborn cardiac surgery.

The postnatal evaluation of the 4 newborns was made by a pediatric cardiologist in the first hours after delivery, using a Philips ultrasound machine iE 33 with a S8-3 transducer.

All the pregnant women signed written informed con- sent before inclusion in the study and we obtained the approval of the local Ethic Committee.

Results

We found CAT type 1 in 9 cases, type 2 in 2 cases, and in 6 cases we could not establish a well-defined type (fig 1). All the data about these cases are detailed in table I.

Discussions

The prenatal diagnosis of fetal CAT represents a chal- lenge for obstetric physicians and pediatric cardiologists, and the difficulties in interpretation of the ultrasonogra- phy findings explain the increased misdiagnosing rate.

Thus, the study of Swanson et al underlines a low rate of antenatal diagnostic of CAT, of only 32% out of the total number of patients diagnosed after birth with CAT [7].

The most common cardiac abnormalities misdiagnosed by both the fetal specialist imaging and pediatric car- diologist included pulmonary stenosis, VSD, myxoma, truncus arteriosus, and coarctation of the aorta [8].

Lee et al also emphasize that the confusion of CAT with aortic or pulmonary valve atresia is also commonly encountered [9]. According to these authors, out of the 17 fetuses that were prenatally diagnosed with CAT and underwent a postnatal echocardiography or autopsy, only 12 were confirmed to have CAT, 5 being incorrectly la- beled as CAT, among which 3 presented pulmonary atre- sia and 2 associated aortic atresia [9].

Truncus arteriosus usually comprises a unique, dys- plastic valve, with regurgitation which is unusual sten- Fig 1. a) The ‘overriding’ single vessels, over septal defect is truncus arteriosus (Common Arterial Trunck) A small pulmonary branch arising from this truncus. RV – right ventricle; b) Common Arterial Trunck type 1, with a small common pulmonary main artery with two branches, arising from the truncus, SVC – superior vena cava; c) Common Arterial Trunck type 2, in this section a single pulmonary branch arising from the truncus.

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otic, with a number of 3 to 6 valvules [6,10,11]. Almost 50% of the cases diagnosed with this anomaly do not pre- sent ductus arteriosus [12]. In our series of cases, regur- gitation of truncal valve was encountered only in 2 cases, similar to the data reported by Volpe et al, where 4 cases out of 23 presented this association [13].

The differential diagnosis of CAT comprises the te- tralogy of Fallot and pulmonary atresia with VSD, es- pecially for types 2 and 3 [14]. In addition, the differ- entiation between the types of CAT is very difficult in the second trimester of pregnancy [13,15], and the ac- curate diagnosis within this gestational period represents a challenge even if MRI is performed [15]. Similarly, in our series of cases, we could not define the exact type of CAT in 41.17% of the cases (7 out 17), or name the exact origin of all arteries/pulmonary branches. It is also worth mentioning that for types 2 and 3 of Collett classifica- tion, the pulmonary branches might be impossible to be identified by ultrasound exam, even after birth requiring an angio-CT.

The most frequently encountered cardiac anomalies associated with CAT are aortic arch on the right side, ASD (atrio-septal defect), anomalies of the aortic arch branches, coarctation of the aorta, AVSD (atrio-ventric- ular septal defect), mitral atresia, and anomalies of the cardiac situs [6]. There were also reported several ge- netic disorders associated with CAT, such as: DiGeorge syndrome in approximatively 40% of the cases [16-21],

trisomies 21, 18, or 13 in 4.5% of the cases [22,23], or even rare cases of trisomy 8 [24]. In addition, extracar- diac malformations, such as genito-urinary abnormalities were also described in over 40% of the cases [19,21,22].

Similarly, Patel et al reported that out of 554 newborns diagnosed with truncus arteriosus, 204 cases presented the coexistence of noncardiac congenital anatomic abnor- malities, genetic abnormalities, and syndromes (36.8%) [25]. In our study, associated disorders were found in 5 of the 17 cases (29.41%) diagnosed with CAT, and we also identified an association with trisomy 18 in one case.

The intrauterine prognosis of CAT depends on the in- sufficient or stenotic truncal valve that can lead to severe consequences such as: cardiac failure, hydrops or even fetal death [23]. Prenatal diagnosis of CAT remains chal- lenging and is associated with a high rate of therapeutic elective termination [7]. Similarly, 8 out of the 17 preg- nancies included in our study, were terminated through a therapeutic abortion, and probably those lost from our evidence reached the same course or died after birth.

The postnatal prognosis depends on multiple factors, such as: the anomaly type, the origin of the pulmonary branches, etc. According to a review which assessed the post-surgical evolution of CAT performed within the first months of life, only 28 out of 48 alive newborns with CAT survived [4], underlining that the diagnosis of CAT carries only approximately 50% survival chances.

Another study pointed out a survival rate much lower, Table I. The description of the 17 cases diagnosed with CAT according to the Collet classification [1].

Case GA Screening diagnosis CAT type Amniocentesis Ultrasound associations Follow-up

1 21 CAT

1 declined No Newborn’s surgery/ died at 8

month, no genetic analysis

2 36 Cardiac anomalies 1 - No Lost of evidence

3 28 Cardiac anomalies 2/3* - No Lost of evidence

4 22 CAT 2/3* declined Tymus hipoplasia Therapeutic abortion

5 23 CAT 2/3* declined Bilateral pielectasy Therapeutic abortion

6 35 Cardiac anomalies 2/3* - No Lost of evidence

7 21 Cardiac anomalies 2/3* declined Retroghnatism Therapeutic abortion

8 19 Cardiac anomalies 2/3* declined No Therapeutic abortion

9 19 Cardiac anomalies 2 declined Retroghnatism, short femur Therapeutic abortion 10 15 CAT Type 1 1 declined Truncal valve regurgitation Therapeutic abortion

11 22 CAT 1 normal karyotype No Newborn’s surgery/ died at 4

month

12 32 Cardiac anomaly 1 - Policystic Kidney’s Newborn’s trisomy 18, died at

2 months 13 28 Cardiac anomaly 1 normal karyotype Truncal valve regurgitation Lost of evidence

14 22 CAT 1 normal karyotype No Alive newborn at 2 months

after first step of surgery

15 23 CAT 1 declined No Therapeutic abortion

16 22 CAT 1 declined Truncal valve regurgitation Ongoing bichorionic pregnancy,

one fetus with normal hearth

17 19 CAT 2 normal karyotype No Therapeutic abortion

GA – gestational age (weeks); CAT – Common arterial trunk; *type 2 or 3 could not be correctly diagnosed in utero

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only 10% after surgical procedure for CAT [7]. The same study stated that even though the prenatal diagnosis led to a surgical repair at a younger age, the neonatal surviv- al rate remained constant [7]. Nevertheless, though the survival rate after surgery is relatively low, it improves further in life. Therefore, Jacobs et al underlined that the overall aggregate operative mortality after CAT repair was 9.4% [26], while Naimo et al emphasized that the survival rate at 30 years reached 73.6% [27]. The patients with the most severe complex defects usually have the highest risk for death [28], raising also medical ethics is- sues [29]. Unfortunately, two of the three newborns from our study who underwent a surgical repair for CAT died and the third is just 2 months old at this moment.

The main limitation of our study is represented by the small number of cases. In these conditions in our study, we had an unfavorable prognosis of this anomaly. There- fore, we can conclude that, without taking into account the ongoing pregnancy with CAT, in our evidence there is just one alive newborn out of the 16 fetuses diagnosed in utero.

Conclusions

Our series of cases supports the fact that a complete intrauterine evaluation of each case of common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports in the literature.

Conflict of interest: None.

Acknowledgements: This research was partially supported by the Collective Research Grants of the Uni- versity of Medicine and Pharmacy Tîrgu Mureş, Roma- nia no.275/4/11.01.2017.

References

1. Collett RW, Edwards JE. Persistent truncus arteriosus; a classification according to anatomic types. Surg Clin North Am 1949;29:1245-1270.

2. Van Praagh R, Van Praagh S. The anatomy of common aor- ticopulmonary trunk (truncus arteriosus communis) and its embryologic implications. A study of 57 necropsy cases.

Am J Cardiol 1965;16:406-425.

3. Jacobs ML. Congenital Heart Surgery Nomenclature and Database Project: truncus arteriosus. Ann Thorac Surg.

2000;69(4 Suppl):S50-S55.

4. Abuhamad AZ, Chaoui R. Common arterial trunk. In: Abu- hamad AZ, Chaoui R. (eds.) A Practical Guide to Fetal Echo- cardiography: Normal and Abnormal Hearts. 3rd ed. Phila- delphia: Lippincot, Williams & Wilkins, 2016:422-434.

5. O’Byrne ML, Mercer-Rosa L, Zhao H, et al. Morbidity in children and adolescents after surgical correction of truncus arteriosus communis. Am Heart J 2013;166:512-518.

6. Bharati S, McAllister HA Jr, Rosenquist GC, Miller RA, Tatooles CJ, Lev M. The surgical anatomy of truncus arterio- sus communis. J Thorac Cardiovasc Surg 1974;67:501-510.

7. Swanson TM, Selamet Tierney ES, Tworetzky W, Pigula F, McElhinney DB. Truncus arteriosus: diagnostic accuracy, outcomes, and impact of prenatal diagnosis. Pediatr Cardiol 2009;30:256-261.

8. Trivedi N, Levy D, Tarsa M, et al. Congenital cardiac anomalies: prenatal readings versus neonatal outcomes. J Ultrasound Med 2012;31:389-399.

9. Lee MY, Won HS, Lee BS, et al. Prenatal diagnosis of com- mon arterial trunk: a single-center’s experience. Fetal Di- agn Ther 2013;34:152-157.

10. Di Donato RM, Fyfe DA, Puga FJ, et al. Fifteen-year ex- perience with surgical repair of truncus arteriosus. J Thorac Cardiovasc Surg 1985;89:414-422.

11. Bashore TM. Adult congenital heart disease: right ventricu- lar outflow tract lesions. Circulation 2007;115:1933-1947.

12. Butto F, Lucas RV Jr, Edwards JE. Persistent truncus ar- teriosus: pathologic anatomy in 54 cases. Pediatr Cardiol 1986;7:95-101.

13. Volpe P, Paladini D, Marasini M, et al. Common arterial trunk in the fetus: characteristics, associations, and out- come in a multicentre series of 23 cases. Heart Br Card Soc 2003;89:1437-1441.

14. Traisrisilp K, Tongprasert F, Srisupundit K, Luewan S, Sukpan K, Tongsong T. Prenatal differentiation between truncus arteriosus (Types II and III) and pulmonary atresia with ventricular septal defect. Ultrasound Obstet Gynecol 2015;46:564-570.

15. Mühler MR, Rake A, Schwabe M, et al. Truncus arteriosus communis in a midtrimester fetus: comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy.

Eur Radiol 2004;14:2120-2124.

16. Goldmuntz E. DiGeorge syndrome: new insights. Clin Peri- natol 2005;32:963-978.

17. Machlitt A, Tennstedt C, Körner H, Bommer C, Chaoui R. Prenatal diagnosis of 22q11 microdeletion in an early second-trimester fetus with conotruncal anomaly present- ing with increased nuchal translucency and bilateral in- tracardiac echogenic foci. Ultrasound Obstet Gynecol 2002;19:510-513.

18. Chaoui R, Kalache KD, Heling KS, Tennstedt C, Bommer C, Körner H. Absent or hypoplastic thymus on ultrasound:

a marker for deletion 22q11.2 in fetal cardiac defects. Ultra- sound Obstet Gynecol 2002;20:546-552.

19. Volpe P, Marasini M, Caruso G, et al. 22q11 deletions in fetuses with malformations of the outflow tracts or inter- ruption of the aortic arch: impact of additional ultrasound signs. Prenat Diagn 2003;23:752-757.

20. Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D. Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. J Pediatr 2001;138:520-524.

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21. Vigneswaran TV, Kametas NA, Zinevich Y, Bataeva R, Al- lan LD, Zidere V. Assessment of cardiac angle in fetuses with congenital heart disease at risk of 22q11.2 deletion.

Ultrasound Obstet Gynecol 2015;46:695-699.

22. Harris JA, Francannet C, Pradat P, Robert E. The epidemi- ology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malforma- tions. Pediatr Cardiol 2003;24:222-235.

23. Malone F, D’ Alton M, Crombleholme T, Bianchi D. Trun- cus Arteriosus. In: Fetology: Diagnosis and Management of the Fetal Patient. Second Edition. New York: McGraw-Hill Professional, 2010:379-383.

24. Sherer DM, Dalloul M, Pinard V, Sheu J, Abulafia O. Fe- tal Trisomy 8 Mosaicism Associated with Truncus Arte- riosus Type I. Ultrasound Obstet Gynecol 2017 Jan 17;

doi:10.1002/uog.17411.

25. Patel A, Costello JM, Backer CL, et al. Prevalence of Non- cardiac and Genetic Abnormalities in Neonates Undergoing

Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database. Ann Thorac Surg 2016;102:1607-1614.

26. Jacobs JP, Mayer JE Jr, Mavroudis C, et al. The Society of Thoracic Surgeons Congenital Heart Surgery Database:

2017 Update on Outcomes and Quality. Ann Thorac Surg 2017;103:699-709.

27. Naimo PS, Fricke TA, Yong MS, et al. Outcomes of Trun- cus Arteriosus Repair in Children: 35 Years of Experience From a Single Institution, Semin Thorac Cardiovasc Surg 2016;28:500-511.

28. Mandalenakis Z, Rosengren A, Skoglund K, Lappas G, Eriksson P, Dellborg M. Survivorship in Children and Young Adults With Congenital Heart Disease in Sweden.

JAMA Intern Med 2017;177:224-230.

29. Pituru S, Vladareanu S, Paun S, Nanu A. Malpractice and professional liability of medical personnel. Farmacia 2015;63:318-324.

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