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, fibrous 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.

Keywords: Congenital cardiopathy; Osteogenesis imperfecta