A Prenatal Ultrasound Diagnosis of an A-Type Persistent Fifth Aortic Arch: A Case Report

A Prenatal Ultrasound Diagnosis of an A-Type Persistent Fifth Aortic Arch: A Case Report | Authorea try { document.documentElement.classList.add('js'); } catch (e) { } var _gaq = _gaq || []; _gaq.push(['_setAccount', 'G-8VDV14Y67G']); _gaq.push(['_trackPageview']); (function() { var ga = document.createElement('script'); ga.type = 'text/javascript'; ga.async = true; ga.src = ('https:' == document.location.protocol ? 'https://ssl' : 'http://www') + '.google-analytics.com/ga.js'; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(ga, s); })(); Skip to main content Preprints Collections Wiley Open Research IET Open Research Ecological Society of Japan All Collections About About Authorea FAQs Contact Us Quick Search anywhere Search for preprint articles, keywords, etc. Search Search ADVANCED SEARCH SCROLL This is a preprint and has not been peer reviewed. Data may be preliminary. 26 April 2025 V1 Latest version Share on A Prenatal Ultrasound Diagnosis of an A-Type Persistent Fifth Aortic Arch: A Case Report Authors : wei chen , Yan Li , Hong Yue , Xiaoyan Gu , Sijia Chen , Yong Guo , and Xuebin Liu [email protected] Authors Info & Affiliations https://doi.org/10.22541/au.174565459.99799217/v1 124 views 74 downloads Contents Abstract Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract This case report presents the prenatal diagnosis of type A persistent fifth aortic arch (PFAA) at 22 weeks gestation, identified by parallel vessels and bifurcated blood flow below the normal aortic arch. Postnatal evaluation confirmed PFAA with muscular VSD and limb abnormalities. Whole exome sequencing detected 14mb repeats at 9q33.3-q34.3, proving that PFAA was associated with chromosomal abnormalities. This case highlights the diagnostic value of ultrasound long-axis aortic arch view in detecting this rare abnormality. A Prenatal Ultrasound Diagnosis of an A-Type Persistent Fifth Aortic Arch: A Case Report Wei Chen¹, Yan Li¹, Hong Yue¹, Xiaoyan Gu², Sijia Chen¹, Yong Guo 2 ,Xuebin Liu 1 1. Department of Ultrasound,Beijing Anzhen Nanchong Hospital of Capital Medical University&Nanchong Central Hospital,Nanchong, Sichuan, China. 2. Echocardiography Medical Center,Beijing Anzhen Hospital,Capital Medical University＆Maternal- Fetal Medicine Center in Fetal Heart Disease,Beijing Anzhen Hospital,Beijing,China. Author: Wei Chen, E-mail: [email protected] . Corresponding author : Xuebin Liu, E-mail: [email protected] . Yan Li, E-mail: [email protected] Hong Yue, E-mail: [email protected] Xiaoyan Gu, E-mail: [email protected] Sijia Chen, E-mail: [email protected] Yong Guo, E-mail: [email protected] 1 ABSTRACT This case report presents the prenatal diagnosis of type A persistent fifth aortic arch (PFAA) at 22 weeks gestation, identified by parallel vessels and bifurcated blood flow below the normal aortic arch. Postnatal evaluation confirmed PFAA with muscular VSD and limb abnormalities. Whole exome sequencing detected 14mb repeats at 9q33.3-q34.3, proving that PFAA was associated with chromosomal abnormalities. This case highlights the diagnostic value of ultrasound long-axis aortic arch view in detecting this rare abnormality. 2 CASE REPORT A 30-year-old primigravida (G2P1) at 22+ weeks’ gestation presented with a spontaneously conceived pregnancy. Both parents were healthy with no family history of genetic disorders. The patient’s obstetric history included an uncomplicated vaginal delivery of a healthy female infant three years earlier. Prenatal ultrasound at our institution revealed an anomalous subaortic vessel (1.7 mm diameter vs. normal arch 2.3 mm) running parallel to the aortic arch, originating from the ascending aorta and connecting to the descending aorta. Color Doppler demonstrated bifurcated flow into both arches. The normal arch exhibited typical three-branch anatomy. Concurrent findings included persistent bilateral thumb adduction and clenched fists, unchanged on serial scans. Prenatal findings suggested persistent fifth aortic arch with abnormal limb posturing, but proposed genetic analysis was declined by the parents. Postnatal examination confirmed thumb adduction, hallux valgus, and arachnodactyly. Echocardiography verified the persistent fifth arch with concomitant muscular VSD (Figure 1). Whole-exome sequencing detected a 14 Mb duplication at 9q33.3-q34.3. 3 DISCUSSION Persistent fifth aortic arch (PFAA) is an extremely rare congenital cardiovascular malformation caused by the failure of the fifth aortic arch to regress during embryonic development [1] . Clinically, PFAA is often classified into three types: A, B, and C [2] . Type A anomaly presents with a complete double aortic arch, consisting of a dominant fourth arch superiorly and a persistent fifth arch inferiorly, with the brachiocephalic vessels typically arising from the fourth arch. In contrast, Type B features a single aortic arch with fourth arch atresia, where the persistent fifth arch originates from the ascending aorta and forms the sole connection to the descending aorta. Type C refers to the fifth arch arising from the innominate artery and connecting to the pulmonary artery. This case belongs to type A PFAA, which is the most common type of PFAA, accounting for approximately 40.4% [3] . The fifth arch of the pulmonary artery can exist independently or be combined with other intracardiac malformations [4-6] , such as aortic arch stenosis or interruption, pulmonary atresia, tetralogy of Fallot, double outlet right ventricle, etc. In addition, the fifth arch of the pulmonary artery may also be related to genetics and chromosomal abnormalities [7] . Literature reports include 22q11.2 chromosomal deletion, PHACE syndrome, and Cornelia de Lange syndrome, etc. In this case, the fetus was combined with ventricular septal defect and limb developmental abnormalities. Genetic testing considered 9q34 duplication syndrome. The long-axis section of the aortic arch in the prenatal ultrasound can clearly display the spatial relationship and blood flow of the ductus arteriosus, the fifth arch, the aortic arch and its branches. It can be regarded as an important examination method for screening PFAA. Isolated PFAA usually has no obvious clinical symptoms. However, in actual work, the persistent fifth arch is often combined with other complex congenital heart diseases and extracardiac malformations, and may also have chromosomal abnormalities [8] . Therefore, prenatal diagnosis of the persistent fifth arch is of great significance. REFERENCES 1. Liu Y, Zhang H, Ren J, et al. Persistent fifth aortic arch: a single-center experience, case series. Transl Pediatr . 2021;10(6):1566-1572. 2. Li TG, Zheng J, Ma B. Ma B. Confusion from prenatal diagnosis: Type C persistent fifth aortic arch or right-side ductus arteriosus. Echocardiography. 2024;41(1):e15729. 3. Sinha M, Rajagopal R, Pandey NN, Kumar S. Type 2 persistent fifth aortic arch: An elusive entity diagnosed on computed tomography angiography. J Cardiovasc Comput Tomogr . 2020;14(5):e29-e30. 4. Yuan R, Li H, Wu J, Yin X. Echocardiography of persistent fifth aortic arch confirmed by computed tomography angiography or surgery in children: a case series. BMC Cardiovasc Disord. 2024;24(1):330. 5. Divekar AA, Sebastian VA. Neonatal repair of persistent fifth aortic arch and aortic coarctation. JTCVS Tech . 2020;4:245-246. 6. Li X, Li J, Qin W, Zhang R. Surgical repair of persistent fifth aortic arch coarctation and interrupted fourth aortic arch without cardiopulmonary bypass: a case report. Transl Pediatr . 2022;11(2):306-310. 7. Shan H, Du X, Zheng G, Ke T, Liao C, Yang H. Persistent fifth aortic arch: a comprehensive literature review. Front Pediatr. 2023;11:1183345. 8. Zheng L, Cao YL, Wu RC, et al. Persistent fifth aortic arch stenosis associated with type A interruption of the aortic arch: a report of six cases. Chin Med J (Engl) . 2019;132(12):1482-1484. Conflict of interest statement: The authors declare no conflict of interest Informed consent statement: This study has received the patient’s intellectual consent Information & Authors Information Version history V1 Version 1 26 April 2025 Copyright This work is licensed under a Non Exclusive No Reuse License. Keywords persistent fifth aortic arch pfaa prenatal echocardiography Authors Affiliations wei chen Nanchong Central Hospital Affiliated to North Sichuan Medical College View all articles by this author Yan Li Nanchong Central Hospital Affiliated to North Sichuan Medical College View all articles by this author Hong Yue Nanchong Central Hospital Affiliated to North Sichuan Medical College View all articles by this author Xiaoyan Gu Capital Medical University Affiliated Anzhen Hospital Cardiac Ultrasound Medical Center View all articles by this author Sijia Chen Nanchong Central Hospital Affiliated to North Sichuan Medical College View all articles by this author Yong Guo Capital Medical University Affiliated Anzhen Hospital Cardiac Ultrasound Medical Center View all articles by this author Xuebin Liu [email protected] Nanchong Central Hospital Affiliated to North Sichuan Medical College View all articles by this author Metrics & Citations Metrics Article Usage 124 views 74 downloads .FvxKWukQNSOunydq8rnd { width: 100px; } Citations Download citation wei chen, Yan Li, Hong Yue, et al. A Prenatal Ultrasound Diagnosis of an A-Type Persistent Fifth Aortic Arch: A Case Report. Authorea . 26 April 2025. DOI: https://doi.org/10.22541/au.174565459.99799217/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu . 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