Case Report Open Access Arnet et al., Neonat Pediatr Med 2017, 3:2 DOI: 10.4172/2572-4983.1000138 Neonat Pediatr Med, an open access journal ISSN: 2572-4983 Volume 3 • Issue 2 • 1000138 Aortopulmonary Window in an Infant with Type I Osteogenesis Imperfecta: Case Report Vanessa Arnet*, Sandra Pereira, Jefferson Magalhães, Claudia Airoza, Tatiana Berg and Renata Barcelos Perinatal Maternity, Barra da Tijuca, Rio de Janeiro, RJ, Brazil Abstract Some studies have shown an association between osteogenesis imperfecta and congenital heart diseases, but only those involving changes in the connective tissue of heart structures, such as heart valves, chordae tendineae, fbrous rings, ventricular septum and aortic root (dilatation). The concomitant presence of osteogenesis imperfecta and aortopulmonary window has not been reported in the specialized literature, rendering the present case report uncommon. We report the case of a male infant aged 2 months and 15 days, diagnosed with type I osteogenesis imperfecta and type I aortopulmonary window, submitted to surgery to completely repair his heart disease. In addition, we provide a literature review and discuss the clinical and surgical approaches to this infant, emphasizing that previous multidisciplinary planning is essential for a successful outcome. *Corresponding author: Vanessa Arnet, Perinatal Maternity, Barra da Tijuca, Rio de Janeiro, RJ, Brazil; Tel: 5521981241658; E-mail: vanarnet@yahoo.com Received October 04, 2016; Accepted November 03, 2016; Published November 14, 2017 Citation: Arnet V, Pereira S, Magalhães J, Airoza C, Berg T, et al. (2017) Aortopulmonary Window in an Infant with Type I Osteogenesis Imperfecta: Case Report. Neonat Pediatr Med 3: 138. doi: 10.4172/2572-4983.1000138 Copyright: © 2017 Arnet V, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Keywords: Congenital cardiopathy; Osteogenesis imperfecta Abbreviations: OI: Osteogenesis Imperfecta; ICU: Neonatal Intensive Care Unit Introduction Osteogenesis imperfecta (OI) is a genetically heritable disease characterized by imperfect bone formation, which leads to bone fragility and bone mass loss [1]. Tis occurs because both the structure and function of type 1 collagen are afected by gene mutations [2]. OI has an incidence of approximately 1 per 15,000-20,000 births, and a heterogeneous clinical presentation, ranging from asymptomatic to lethal [3]. Initially, OI was classifed by Sillence, et al. [4,5] into 4 types based on its clinical characteristics and severity. Recently, types V, VI, VII and VIII [6,7] have been added, and, despite having no defect in the collagen gene, they are characterized by bone frailty (Table 1). Te association of OI with congenital heart disease leads to changes in the connective tissue [4,8]. Such changes have a structural impact on the cardiovascular system, afecting heart valves, chordae tendineae, fbrous rings, interventricular septum, arteries and the aorta [9,10]. Publications on severe cardiac structural changes in patients with OI have been infrequent, most studies reporting on aortic root dilatation and valvular dysfunction in those patients [11]. Te major medical journals lack reports on the association of OI with congenital aortopulmonary window. Te aortopulmonary window is rare, accounting for approximately 0.15% of all congenital heart diseases. It results from the abnormal septation of the aortopulmonary trunk during embryogenesis, leading to a communication defect between the ascending aorta and the pulmonary trunk or artery [12]. According to Mori’s classifcation [13], adapted by Ho [14], the types of aortopulmonary window are as follows: type I (proximal – 70%); type II (distal – 20%); type III, (5%), a combination of types I and II, simulating a truncus arteriosus [15]; and type IV, the intermediate defect (Figure 1). In approximately 80% of the cases, identifcation of the aortopulmonary window can be hindered by its association with another cardiac anomaly [16]. We report the case of an infant with OI and congenital heart disease, submitted to surgical repair, its relevance lying in the presence of OI as an underlying bone disorder. In addition, the clinical, anesthetic and surgical approaches are discussed. Case Report Te patient is a male twin infant, born by Cesarean delivery at term and birth weight of 2460 g. His mother has type I OI. He was admitted to the neonatal intensive care unit (ICU) because of respiratory distress in the frst hours following birth. In the neonatal ICU, he required ventilation with positive pressure and nasal prong. As the dyspnea persisted, he was submitted to several inconclusive echocardiographies and to inefective treatments. Te infant was, then, referred for new imaging tests at a specialized hospital, where an echocardiogram raised the suspicion of heart disease. A tomographic angiography confrmed that by evidencing proximal aortopulmonary window and increased pulmonary fow. Diuretic was then initiated, resulting in improvement of the respiratory fndings, and progressive ventilator weaning to room air. Te infant was then referred to a specialized hospital that provided heart surgery. His preoperative echocardiogram revealed patent foramen ovale, mild tricuspid regurgitation, signifcant overload of the lef cavities, dilated pulmonary artery and veins, wide 9.0-mm aortopulmonary window, and preserved myocardial function. His preoperative laboratory tests were normal. On the third day of admission, the infant was sent to the operating room for total repair of his heart disease. He was carefully placed on the operating table, which was topped with an “egg-box” mattress (Figure 2). Te infant was properly positioned for surgery, with pads placed under the pressure points. Orotracheal intubation was performed N e o n a t a l a n d P e d i at r i c M e d i c i e n ISSN: 2572-4983 Journal of Neonatal and Pediatric Medicine