Cardiorespiratory complications in patients with osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, usually caused by dominant mutations of genes coding forcollagen type I alpha chains, COL1A1/A2. Although skeletal manifestations of OI are most readily observable, cardiopulmonarydisorders in patients with OI are increasingly recognized as life-threatening but treatable disorders. Unfortunately, the majority ofpatients with moderate to severe types of OI die from or with cardiopulmonary complications. The lungs and the heart are oftenunrecognizable and neglected organs in patients with OI. In monitoring of patients with OI, attention is mostly focused on monitoringlong bone and spine deformities, and indirectly deformities of the chest wall, which have consequences on the development oflung and the airway diseases. Lung disorder is frequently ignored until breathing problems become severe. An important componentin patients with OI is obstructive lung disease, sleep disordered breathing, as well as acute and chronic infection often connectedwith resultant bronchiectasis. In addition to respiratory complications, some patients with OI have serious cardiovascularproblems, including severe mitral valve prolapse, aortic valve insuffi ciency and dilation of the aorta, which require cardiac surgery.The diagnosis and management of the lung and cardiovascular complications in some patients with OI are quite diffi cult. In allpatients with OI, it is important to recognize and monitor respiratory and cardiovascular manifestations in order to prevent furtherprogression of any complications.Key words: osteogenesis imperfecta; pulmonary disease; pulmonary function; lung infections; cardiovascular manifestation; prevention

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