ART OF MEDICINE 2017
A CASE OF PATENT DUCTUS ARTERIOSUS COMPLICATED BY EISENMENGER SYNDROME IN A PATIENT WITH OSTEO-GENESIS IMPERFECTA
O.Z. Skakun, S.V. Fedorov, O.S. Verbovska
Abstract. Patent ductus arteriosus is one of the most common congenital heart defects, which without well-timed diagnostic and radical surgical treatment leads to the development of pulmonary hypertension. In such patients, the pulmonary hypertension gradually progresses and may be complicated by Eisenmenger syndrome leading to the significant reduction in the duration and the quality of life.
Often the patent ductus arteriosus is associated with other congenital abnomalies, including osteogenesis imperfecta. This is a hereditary disease that occurs as a result of mutation in the gene encoding the first type procologen and manifests by both skeletal and extraskeletal features. Often osteogenesis imperfecta remains undiagnosed in childhood and many of its manifestations are not detected. Besides patent ductus arteriosus, the osteogenesis imperfecta is associated with aortic root dilation, atrial and ventricular septal defect, mitral valve prolapse, mitral regurgitation, aortic valve prolapse.
The case of retarded diagnostic of this syndrome in real clinical practice is described in this article. Osteogenesis imperfecta in a twenty-year-old woman hasn’t been diagnosed. In addition, in this patient the patent ductus arteriosus was detected at the age of six years old, no radical surgical treatment was performed. The patient developed severe pulmonary hypertension, which was complicated by Eisenmenger syndrome.
The patient has four phenotypic features of the osteogenesis imperfecta: blue sclera, short stature, congenital heart defect and scoliosis. The combination of such signs allows to think about an abnormal collagen synthesis, which is observed in some hereditary diseases, and requires the consultation of a geneticist followed by the detection of a mutated gene. Well-timed diagnostic of the osteogenesis imperfecta improves the detection of other skeletal and extraskeletal manifestations of this syndrome and helps to choose the best management of such patients. The presence of blue sclera in children should alert doctor regarding hereditary disease with possible numerous manifestations in various organ systems.
Nowadays, there are following available options for this patient’s management: heart-lung transplantation, pharmacological treatment with endothelin receptor anntagonists, phosphodiesterase-5 inhibitors, prostanoids and palliative measures. Ductus arteriosus closure is not recommended for this patient nowadays: it does not lead to the reduction of pulmonary hypertension and may be harmful.
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