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Korean J Pediatr 2012 June;55(6) :212-214.
Published online 2012 June 15.        doi:
Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome
Hyung Soon Choi (Choi HS)1, Jeong Jin Yu (Yu JJ)2, Young-Hwue Kim (Kim YH)2, Jae-Kon Ko (Ko JK)2, In-Sook Park (Park IS)2
1Department of Pediatrics, Kosin University Gospel Hospital, Busan, Korea
2Division of Pediatric Cardiology, Department of Pediatrics, University of Ulsan College of Medicine, Seoul, Korea
Corresponding Author: Jeong Jin Yu ,Tel: +82-2-3010-3924, Fax: +82-2-473-3725, Email:
Copyright © 2012 by The Korean Pediatric Society
Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately onethird of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep apnea (OSA). In our case, pulmonary hypertension was caused, successively, by congenital heart defects (a large patent ductus arteriosus and arch hypoplasia) and obstructive sleep apnea during early infancy. The congenital heart defects were surgically corrected, but persistent pulmonary hypertension was identified 2 months after the operation. This pulmonary hypertension was due to OSA, and it was relieved by nasal continuous positive airway pressure. This case is the first report of pulmonary hypertension from OSA in a young infant with RTS.
Keywords: Rubinstein-Taybi syndrome | Obstructive sleep apnea | Pulmonary hypertension
1. Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 1963;105:588–608.
2. Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet Suppl 1990;6:3–16.
3. Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet 1995;59:346–348.
4. Zucconi M, Ferini-Strambi L, Erminio C, Pestalozza G, Smirne S. Obstructive sleep apnea in the Rubinstein-Taybi syndrome. Respiration 1993;60:127–132.
5. Allanson JE. Rubinstein-Taybi syndrome: the changing face. Am J Med Genet Suppl 1990;6:38–41.
6. Chang SJ, Chae KY. Obstructive sleep apnea syndrome in children: Epidemiology, pathophysiology, diagnosis and sequelae. Korean J Pediatr 2010;53:863–871.
7. Ahn YM. Treatment of obstructive sleep apnea in children. Korean J Pediatr 2010;53:872–879.
8. Kyzer S, Charuzi I. Obstructive sleep apnea in the obese. World J Surg 1998;22:998–1001.
9. Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl 1990;6:56–64.
10. Golbin JM, Somers VK, Caples SM. Obstructive sleep apnea, cardiovascular disease, and pulmonary hypertension. Proc Am Thorac Soc 2008;5:200–206.
11. Ramar K, Caples SM. Vascular changes, cardiovascular disease and obstructive sleep apnea. Future Cardiol 2011;7:241–249.
12. Rajagopalan N. Obstructive sleep apnea: not just a sleep disorder. J Postgrad Med 2011;57:168–175.
13. Motley HL, Cournand A, Werko L, Himmelstein A, Dresdale D. The influence of short periods of induced acute anoxia upon pulmonary artery pressures in man. Am J Physiol 1947;150:315–320.
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Supplementary Material  Supplementary Material
Treatment of obstructive sleep apnea in children  2010 October;53(10)
Pulmonary hypertension in infants with bronchopulmonary  2010 June;53(6)
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