Paediatria Croatica, Vol. 61 No. 3, 2017.
Review article
https://doi.org/10.13112/PC.2017.15
Cardiorespiratory complications in patients with osteogenesis imperfecta
Mirjana Turkalj
; Djećja bolnica Srebrnjak
Vesna Miranović
Rajka Lulić-Jurjević
Romana Gjergja Juraški
Dragan Primorac
Abstract
Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder, usually caused by dominant mutations of genes coding for
collagen type I alpha chains, COL1A1/A2. Although skeletal manifestations of OI are most readily observable, cardiopulmonary
disorders in patients with OI are increasingly recognized as life-threatening but treatable disorders. Unfortunately, the majority of
patients with moderate to severe types of OI die from or with cardiopulmonary complications. The lungs and the heart are often
unrecognizable and neglected organs in patients with OI. In monitoring of patients with OI, attention is mostly focused on monitoring
long bone and spine deformities, and indirectly deformities of the chest wall, which have consequences on the development of
lung and the airway diseases. Lung disorder is frequently ignored until breathing problems become severe. An important component
in patients with OI is obstructive lung disease, sleep disordered breathing, as well as acute and chronic infection often connected
with resultant bronchiectasis. In addition to respiratory complications, some patients with OI have serious cardiovascular
problems, 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 all
patients with OI, it is important to recognize and monitor respiratory and cardiovascular manifestations in order to prevent further
progression of any complications.
Keywords
osteogenesis imperfecta; pulmonary disease; pulmonary function; lung infections; cardiovascular manifestation; prevention
Hrčak ID:
201164
URI
Publication date:
25.9.2017.
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