O.Z. Skakun, S.V. Fedorov, O.S. Verbovska

          Ivano-Frankivsk National Medical University, Department of Therapy and Family Medicine of Postgraduate Education, Ivano-Frankivsk, Ukraine, ORCID ID: 0000-0002-2202-4279 e-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.



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.


Keywords: osteogenesis imperfecta, patent ductus arteriosus, Eisenmenger syndrome, blue sclera syndrome.


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1. Time to spontaneous ductus arteriosus closure in full-term neonates / H. Nagasawa, C. Hamada, M. Wakabayashi, [et al.] // Open Heart 2016. – №3. – e000413. doi: 10.1136 / openhrt-2016-000413.

2. Clyman R.I. Ibuprofen and patent ductus arteriosus/ R.I. Clyman// New Engl J Med. –2000. –  №343. – Р. 728–739.

3. Dice J.E. Patent Ductus Arteriosus: An Overview / J.E. Dice, J. Bhatia // J Pediatr Pharmacol Ther. – 2007 – №12(3). – P.138–146.

4. Pathogenesis of pulmonary arterial hypertension: lessons from cancer / C.Guignabert, L. Tu, M. L. Hiress, [et al.] // European Respiratory Review. – 2013. – Vol. 22. – P. 543-551.

5. Veyssier-Belot C. Role of endothelial and smooth muscle cells in the physiopathology andtreatment management of pulmonary hypertension / C. Veyssier-Belot, P. Cacoub // Cardiovascular Research. – 1999. – Vol. 40. – P. 274–282.

6. Life span of patients with Eisenmenger syndrome is not superior to that of patients with other causes of pulmonary hypertension / Bonello B., Renard S., Mancini J. [et al.] // Cardiovasc Diagn Ther. – 2014. – Vol. 4(5). – P. 341–349.

7. ESC Guidelines for the management of grown-up congenital heart disease: The Task Force on the Management of Grown-up Congenital Heart Disease of the European Society of Cardiology (ESC). – European Heart Journal. – 2010. – Vol. 31. – P. 2915–2957.

8. Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families / Essawi O., Symoens S., Fannana M. [et al.] // Mol Genet Genomic Med. – 2018 – №6(1). – P.15–26.

9. Salah H. Cardiological assessment of a cohort of Egyptian patients with osteogenesis imperfecta type III / H. Salah, M. Moghazy // Egyptian Journal of Medical Human Genetics. – 2016. Vol. 17. – P. 197-200.

10. Hoffman J.I. The incidence of congenital heart disease / J.I. Hoffman, S. Kaplan // J Am Coll Cardiol. – 2002 . – №39(12). – P.1890-1900.

11. Sam J.E. Osteogenesis Imperfecta / J. E. Sam, M. Dharmalingam // Indian J Endocrinol Metab. – 2017. – Vol. 21(6). – P. 903–908.

12. Osteogenesis Imperfecta: A Review with Clinical Examples / F.S. van Dijk, J.M. Cobben, A. Kariminejad [et al.] // Mol Syndromol. – 2011. – Vol. 2(1). – P. 1–20.

13. Bonita R.E. Valvular heart disease in osteogenesis imperfecta: presentation of a case and review of the literature / R.E. Bonita, I.S. Cohen, B.A. Berko // Echocardiography. – 2010. – Vol.27(1). – P. 69-73.

14. Beghetti M. Eisenmenger Syndrome: A Clinical Perspective in a New Therapeutic Era of Pulmonary Arterial Hypertension / M Beghetti, N. Galiè // Journal of the American College of Cardiology. – 2009. – Vol. 53. № 9. – P. 733-740.

15. Berman E.B. Eisenmenger's syndrome: current management / E.B. Berman, R.J.Barst // Prog Cardiovasc Dis. – 2002. – Vol. 45. – P.129–138.

16. Mocellin R. Late banding operation in children with ventricular septal defect and pulmonary arterial hypertension / R. Mocellin, K. Buhlmeyer // Eur J Cardiol. – 1975. – Vol.3. – 205–211.

17. Is There an Optimal Timing for Surgical Ligation of Patent Ductus Arteriosus in Preterm Infants? / V. L. Vida, P. Lago, S. Salvatori // Journal of The Society of Thoracic Surgeons and the Southern Thoracic Surgical Association. – 2009. – Vol. 87. – P. 1509–1516.