Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome

Area of Science:

• Pediatrics
• Genetics
• Cardiology

Background:

• Rubinstein-Taybi syndrome (RTS) is a genetic disorder associated with distinctive facial features, intellectual disability, and limb abnormalities.
• Congenital heart defects (CHDs) affect about one-third of RTS patients.
• Patients with RTS are prone to upper airway obstruction and obstructive sleep apnea (OSA) due to hypotonia and oropharyngeal anatomy.

Purpose of the Study:

• To report the first case of pulmonary hypertension caused by obstructive sleep apnea (OSA) in an infant with Rubinstein-Taybi syndrome (RTS).
• To illustrate the successful management of OSA-induced pulmonary hypertension in an infant with RTS.

Main Methods:

• Case report of an infant with Rubinstein-Taybi syndrome.
• Diagnosis and management of congenital heart defects and subsequent pulmonary hypertension.
• Evaluation and treatment of obstructive sleep apnea using nasal continuous positive airway pressure (CPAP).

Main Results:

• The patient presented with pulmonary hypertension secondary to congenital heart defects (large patent ductus arteriosus and arch hypoplasia).
• Following surgical correction of CHDs, persistent pulmonary hypertension was identified.
• This persistent pulmonary hypertension was attributed to obstructive sleep apnea (OSA) and resolved with nasal CPAP therapy.

Conclusions:

• Obstructive sleep apnea (OSA) can be a significant cause of pulmonary hypertension in infants with Rubinstein-Taybi syndrome (RTS), even after correction of congenital heart defects.
• Nasal continuous positive airway pressure (CPAP) is an effective treatment for OSA-induced pulmonary hypertension in this population.
• This case underscores the importance of screening for OSA in infants with RTS presenting with respiratory or cardiovascular compromise.