Congenital malformations potentially affecting respiratory function: multidisciplinary approach and follow-up

Congenital malformations potentially affecting respiratory function: multidisciplinary approach and follow-up


  • Valentina Fainardi
  • Laura Nicoletti Pediatric Clinic, Dept of Medicine and Surgery, Pietro Barilla Children's Hospital, University of Parma, Italy
  • Cristiano Conte Pediatric Clinic, Dept of Medicine and Surgery, Pietro Barilla Children's Hospital, University of Parma, Italy
  • Serena Massa Pediatric Clinic, Dept of Medicine and Surgery, Pietro Barilla Children's Hospital, University of Parma, Italy
  • Lisa Torelli Pediatric Clinic, Dept of Medicine and Surgery, Pietro Barilla Children's Hospital, University of Parma, Italy
  • Alberto Attilio Scarpa Pediatric Surgery Unit, Pietro Barilla Children's Hospital, Parma, Italy
  • Emilio Casolari Pediatric Surgery Unit, Pietro Barilla Children's Hospital, Parma, Italy
  • Susanna Maria Roberta Esposito Pediatric Clinic, Dept of Medicine and Surgery, Pietro Barilla Children's Hospital, University of Parma, Italy
  • Giovanna Pisi Pediatric Clinic, Dept of Medicine and Surgery, Pietro Barilla Children's Hospital, University of Parma, Italy


congenital malformation, respiratory follow-up, multidisciplinary follow-up, lung function, diaphragmatic hernia, oesophageal atresia, vascular rings, congenital pulmonary airway malformations


Background and aim. Congenital malformations such as oesophageal atresia (OA) and tracheoesophageal fistula (TOF), congenital pulmonary airway malformations (CPAMs), congenital diaphragmatic hernia (CDH) and vascular rings (VRs) can affect lung development and respiratory function. This observational study describes our multidisciplinary approach and respiratory follow-up of children with such congenital malformations.

Methods. Clinical data of children followed at the Pediatric Respiratory Unit of Parma University Hospital (Italy) between January 2015 and January 2020 were collected. 

Results. Twenty-three patients with congenital malformation affecting lung development were identified. Almost half of our patients were diagnosed with fetal ultrasound.  Children attended the clinic at a mean age of 3 (3.7) years and follow-up visits were scheduled every 6 months average. More than half of our patients were hospitalized for lower respiratory tract infections. Six out of 9 children able to perform spirometry showed anomalies in lung function. Chest physiotherapy was recommended especially in children with OA.

Conclusions. Children with congenital malformations affecting lung development are at risk of short and long-term respiratory complications, especially in the first years of life. OA was the malformation more associated to respiratory problems. Multidisciplinary approach and appropriate personalized follow-up are recommended for the best management of these children.


Abstract word count: 186


1. Garabedian C, Vaast P, Bigot J, Sfeir R, Michaud L, Gottrand F, et al. Atrésie de l’œsophage: prévalence, diagnostic anténatal et pronostic. Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 2014;43(6):424–30
2. Achildi O, Grewal H. Congenital anomalies of the esophagus. Otolaryngol Clin North Am. 2007;40(1):219–44
3. Meyyappan M, Praveen Sharma K, Aslam M. Antenatally Diagnosed Congenital Pulmonary Airway Malformation with Postnatal Follow-up. J Appl Sci Res. 2019;8(12)
4. Mehta PA, Sharma G. Congenital Pulmonary Airway Malformation.In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2020. Updated December 4, 2019.
5. Disu EA, Kehinde OA, Anga AL, Ubuane PO, Itiola A, Akinola IJ, et al. Congenital pulmonary airway malformation: A case report of a rare cause of neonatal respiratory distress and review of the literature. Niger J Clin Pract. 2019;22(11):1621–5
6. Alshamiri KM, Abbod HB. Congenital cystic adenomatoid malformation. Int J Pediatr Adolesc Med. 2017;4(4):159–60
7. Aly H, Bianco-Batlles D, Mohamed MA, Hammad TA. Mortality in infants with congenital diaphragmatic hernia: a study of the United States National Database. Journal of Perinatology 2010;(30):553–7
8. Hanneman K, Newman B, Chan F. Congenital Variants and Anomalies of the Aortic Arch RadioGraphics. 2017;(37):32–51
9. François K, Panzer J, De Groote K, Vandekerckhove K, De Wolf D, De Wilde H, et al. Early and late outcomes after surgical management of congenital vascular rings. European Journal of Pediatrics. 2017;(176):371–7
10. Deprest J, Brady P, Nicolaides K, Benachi A, Berg C, Vermeesch J, et al. Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial. Semin Fetal Neonatal Med. 2014;19(6):338–48
11. Elhalaby EA, Abo Sikeena MH. Delayed presentation of congenital diaphragmatic hernia. Pediatr Surg Int. 2002;18(5-6):480–5
12. Pardy C, D’Antonio F, Khalil A, Giuliani S. Prenatal detection of esophageal atresia: A systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2019;98(6):689–99
13. Garabedian C, Vaast P, Verpillat P, Sfeir R, Coulon C, Houfflin-Debarge V. Prenatal diagnosis of esophageal atresia: A case of triple negative screening. J Gynecol Obstet Hum Reprod. 2019;48(1):69–70
14. Young AA, Hornberger LK, Haberer K, Fruitman D, Mills L, Noga M, et al. Prenatal Detection, Comorbidities, and Management of Vascular Rings. Am J Cardiol. 2019 15;123(10):1703–8
15. Serio P, Nenna R, Fainardi V, Grisotto L, Biggeri A, Leone R, et al. Residual tracheobronchial malacia after surgery for vascular compression in children: treatment with stenting. Eur J Cardiothorac Surg. 2017;51(2):211-17
16. Annunziata F, Bush A, Borgia F, Raimondi F, Montella S, Poeta M, et al. Congenital Lung Malformations: Unresolved Issues and Unanswered Questions. Front Ped. 2019;7:239
17. Patria MF, Ghislanzoni S, Macchini F, Lelii M, Mori A, Leva E, et al. Respiratory Morbidity in Children with Repaired Congenital Esophageal Atresia with or without Tracheoesophageal Fistula. Int J Environ Res Public Health 2017;14(10)
18. van Lennep M, Singendonk MMJ, Dall’Oglio L, Gottrand F, Krishnan U, Terheggen-Lagro SWJ, et al. Oesophageal atresia. Nat Rev Dis Primers. 2019;5(1):26
19. Pedersen RN, Markøw S, Kruse-Andersen S, Qvist N, Gerke O, Husby S, et al. Long-term pulmonary function in esophageal atresia-A case-control study. Pediatr Pulmonol. 2017;52(1):98–106
20. Sadreameli SC, McGrath-Morrow SA. Respiratory Care of Infants and Children with Congenital Tracheo-Oesophageal Fistula and Oesophageal Atresia. Paediatr Respir Rev. 2016;17:16–23
21. Serio P, Fainardi V, Leone R, Baggi R, Grisotto L, Biggeri A, et al. Tracheobronchial obstruction: follow-up study of 100 children treated with airway stenting. Eur J Cardiothorac Surg. 2014;45(4):e100–9
22. Cook J, Chitty LS, De Coppi P, Ashworth M, Wallis C. The natural history of prenatally diagnosed congenital cystic lung lesions: long-term follow-up of 119 cases. Arch Dis Child. 2017;102(9):798–803
23. Stanton M, Njere I, Ade-Ajayi N, Patel S, Davenport M. Systematic review and meta-analysis of the postnatal management of congenital cystic lung lesions. J Pediatr Surg. 2009;44(5):1027–33
24. Thakkar HS, Durell J, Chakraborty S, Tingle B-L, Choi A, Fowler DJ, et al. Antenatally Detected Congenital Pulmonary Airway Malformations: The Oxford Experience. Eur J Pediatr Surg. 2017;27(4):324–9
25. Hijkoop A, van Schoonhoven MM, van Rosmalen J, Tibboel D, van der Cammen-van Zijp MHM, Pijnenburg MW, et al. Lung function, exercise tolerance, and physical growth of children with congenital lung malformations at 8 years of age. Pediatr Pulmonol. 2019;54(8):1326–34
26. Laberge J-M, Bratu I, Flageole H. The management of asymptomatic congenital lung malformations. Paediatr Respir Rev. 2004;5 Suppl A:S305–12
27. Koziarkiewicz M, Taczalska A, Piaseczna-Piotrowska A. Pulmonary torsion as an atypical complication of congenital esophageal atresia repair-a case report and review of literature. European J Pediatr Surg Rep. 2014;2(1):43–5
28. Gischler SJ, van der Cammen-van Zijp MHM, Mazer P, Madern GC, Bax NMA, de Jongste JC, et al. A prospective comparative evaluation of persistent respiratory morbidity in esophageal atresia and congenital diaphragmatic hernia survivors. J Pediatr Surg. 2009;44(9):1683–90
29. Stefanutti G, Filippone M, Tommasoni N, Midrio P, Zucchetta P, Moreolo GS, et al. Cardiopulmonary anatomy and function in long-term survivors of mild to moderate congenital diaphragmatic hernia. Journal of Pediatric Surgery. 2004 (39);526–31
30. Resch B. Product review on the monoclonal antibody palivizumab for prevention of respiratory syncytial virus infection. Hum Vaccin Immunother. 2017;13(9):2138–49
31. Paes B, Kim D, Saleem M, Wong S, Mitchell I, Lanctot KL, et al. Respiratory syncytial virus prophylaxis in infants with congenital airway anomalies compared to standard indications and complex medical disorders. Eur J Pediatr. 2019;178(3):377–85
32. Expert consensus on palivizumab use for respiratory syncytial virus in developed countries. Paediatr Respir Rev. 2020;33:35–44
33. Leibovitch L, Zohar I, Maayan-Mazger A, Mazkereth R, Strauss T, Bilik R. Infants Born with Esophageal Atresia with or without Tracheo-Esophageal Fistula: Short- and Long-Term Outcomes. Isr Med Assoc J. 2018;20(3):161–6
34. Mirra V, Maglione M, Di Micco LL, Montella S, Santamaria F. Longitudinal Follow-up of Chronic Pulmonary Manifestations in Esophageal Atresia: A Clinical Algorithm and Review of the Literature. Pediatr Neonatol. 2017;58(1):8–15
35. Donoso F, Hedenström H, Malinovschi A, E Lilja H. Pulmonary function in children and adolescents after esophageal atresia repair. Pediatr Pulmonol. 2020;55(1):206–13
36. Sistonen S, Malmberg P, Malmström K, Haahtela T, Sarna S, Rintala RJ, et al. Repaired oesophageal atresia: respiratory morbidity and pulmonary function in adults. Eur Respir J. 2010;36(5):1106–12
37. Maneenil G, Ruangnapa K, Thatrimontrichai A, Janjindamai W, Dissaneevate S, Anantaseree W, et al. Clinical presentation and outcome in congenital pulmonary malformation: 25 year retrospective study in Thailand. Pediatr Int. 2019;61(8):812–6
38. Spoel M, van den Hout L, Gischler SJ, Hop WCJ, Reiss I, Tibboel D, et al. Prospective longitudinal evaluation of lung function during the first year of life after repair of congenital diaphragmatic hernia. Pediatr Crit Care Med. 2012;13(3):e133–9
39. Basek P, Bajrami S, Straub D, Moeller A, Baenziger O, Wildhaber J, et al. The pulmonary outcome of long-term survivors after congenital diaphragmatic hernia repair. Swiss Med Wkly. 2008;138(11-12):173–9
40. Vanamo K, Rintala R, Sovijärvi A, Jääskeläinen J, Turpeinen M, Lindahl H, et al. Long-term pulmonary sequelae in survivors of congenital diaphragmatic defects. Journal of Pediatric Surgery. 1996 (31);1096–100
41. Pisi G, Chetta A. Airway clearance therapy in cystic fibrosis patients. Acta Biomed. 2009;80(2):102–6
42. Wallis C, Alexopoulou E, Antón-Pacheco JL, Bhatt JM, Bush A, Chang AB, et al. ERS statement on tracheomalacia and bronchomalacia in children. Eur Respir J. 2019;54(3)
43. Sirithangkul S, Ranganathan S, Robinson PJ, Robertson CF. Positive expiratory pressure to enhance cough effectiveness in tracheomalacia. J Med Assoc Thai. 2010;93 Suppl 6:S112–8




How to Cite

Fainardi V, Nicoletti L, Conte C, Massa S, Torelli L, Scarpa AA, et al. Congenital malformations potentially affecting respiratory function: multidisciplinary approach and follow-up . Acta Biomed [Internet]. 2020 Sep. 4 [cited 2024 Jul. 24];92(1):e2021069. Available from: