Contents lists available at ScienceDirect Progress in Pediatric Cardiology journal homepage: www.elsevier.com/locate/ppedcard Pulmonary artery sling – A novel cardiovascular finding in a patient with distal 18q deletion Tomas Jurko a , Alexander Jurko Jr b , Alexander Jurko b , Jana Krsiakova c , Milan Minarik d , Michal Mestanik e,f, ⁎ , Ingrid Tonhajzerova f,e a Department of Neonatology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital Martin, Kollarova 2, 03601 Martin, Slovakia b Pediatric Cardiology Clinic, Kollarova 13, 03601 Martin, Slovakia c Department of Genetic Medicine, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital Martin, Kollarova 2, 03601 Martin, Slovakia d Faculty of Health Care, Catholic University in Ruzomberok, Namestie A. Hlinku 48, 03401 Ruzomberok, Slovakia e Biomedical Center Martin, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Mala Hora 4D, 03601 Martin, Slovakia f Department of Physiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Mala Hora 4C, 03601 Martin, Slovakia ARTICLE INFO Keywords: Distal 18q deletion Congenital heart defects Pulmonary artery sling Echocardiography Angiography ABSTRACT Among the rare chromosome abnormalities compatible with life, partial monosomy of chromosome 18 is a relatively frequent chromosomal aberration. The affected individuals are at relatively increased risk of having congenital cardiac defects with the pulmonary valve anomalies and atrial septal defects being the most common findings. We report a patient with a distal 18q deletion, follow-up from birth to 15 years of age, and a novel finding of distal 18q-–associated cardiovascular anomaly - a pulmonary artery sling. Since birth, the patient presented with characteristic phenotype features, respiratory distress, and frequent respiratory infections. Echocardiographic examination revealed atrial septal defect and a suspicion for presence of pulmonary artery sling, which was later confirmed using computed tomography angiocardiography. During the surgery at 18 months of age, patent ductus arteriosus was found and repaired together with repair of atrial septal defect and pulmonary artery sling. Postoperatively, the stridor and respiratory distress gradually disappeared. Since exact echocardiographic imaging of vascular anomalies can be challenging in some patients, the occurrence of pul- monary artery sling in the individuals with distal 18q deletion is likely not so exceptional, but rather it may be missed during routine echocardiographic evaluation. Therefore, the definitive diagnosis should be made using computed tomography angiocardiography, which is preferred to magnetic resonance imaging due to better vi- sualization of lung parenchyma and airways, higher spatial resolution, and faster scanning with lower re- quirement of sedation. To our knowledge, this is the first report of pulmonary artery sling in a patient with a distal 18q deletion. 1. Introduction Partial monosomy of chromosome 18 is, among the rare chromo- some abnormalities compatible with life, a relatively frequent seg- mental aneusomy with the incidence of 18q deletion about 1:40000 livebirths [1,2]. The manifestations of this condition vary greatly be- tween individuals and the most common clinical findings are devel- opmental delay, short stature, seizures, abnormal behaviour, minor facial dismorphology, weak muscle tone, narrow auditory canals leading to hearing loss, various forms of intellectual disability, and cardiovascular anomalies [2–4]. We present a case of a patient diagnosed with a distal 18q deletion with the characteristic phenotype features observed from birth up to 15 years of age and a novel finding of associated cardiovascular anomaly - pulmonary artery sling. To our knowledge, this is the first report of pulmonary artery sling in a patient with distal 18q-. 2. Case Report 2.1. Clinical Status after Birth The boy was born at the 41st week of gestation from the second https://doi.org/10.1016/j.ppedcard.2018.12.001 Received 3 October 2018; Received in revised form 12 December 2018; Accepted 14 December 2018 ⁎ Corresponding author at: Biomedical Center Martin and Department of Physiology, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Mala Hora 4D, 03601 Martin, Slovakia. E-mail addresses: jurko@jfmed.uniba.sk (A. Jurko), mestanik@jfmed.uniba.sk (M. Mestanik), tonhajzerova@jfmed.uniba.sk (I. Tonhajzerova). Progress in Pediatric Cardiology xxx (xxxx) xxx–xxx 1058-9813/ © 2018 Elsevier B.V. All rights reserved. Please cite this article as: Jurko, T., Progress in Pediatric Cardiology, https://doi.org/10.1016/j.ppedcard.2018.12.001