Abstract

Abstract Introduction Prader-Willi syndrome (PWS) is a genetic multi-system disorder characterized by developmental delay, hyperphagia, and often morbid obesity. Patients can have impairments in ventilatory control and are at risk for sleep disordered breathing due to craniofacial abnormalities, obesity, hypothalamic dysfunction, hypotonia and respiratory muscle weakness. This places them at higher risk for obstructive sleep apnea (OSA), hypoventilation and, if left untreated, may lead to cardiovascular complications. We present a patient with pulmonary hypertension (PH) in the setting of PWS and under supported OSA. Report of case(s) A 17-year-old female with PWS, obesity, type II diabetes mellitus, developmental delay and severe OSA, non-adherent to positive airway pressure (PAP) therapy, presented with 6 months of pedal edema, weight gain with acute shortness of breath, fatigue, and decreased appetite. Upon arrival she developed hypoxemic, hypercapnic respiratory failure requiring intubation. Echocardiogram two months prior to admission showed normal right ventricular size and function with normal septal configuration. Echocardiogram after intubation showed signs of PH with dilated and hypokinetic ventricles compared to prior exam, worsening tricuspid valve regurgitation, and septal bowing. Sleep history was notable for severe OSA in 2017 with obstructive apnea-hypopnea index (oAHI) of 22.6, oxygen nadir of 74%, peak transcutaneous pCO2 of 51 mmHg. Patient was lost to follow-up and as per our history, was non-adherent to PAP therapy. On admission she was started on aggressive diuresis and tadalafil. After successful extubation to BPAP and wean to room air while awake, a BPAP titration PSG was performed. It demonstrated low baseline oxygen saturations (93%), an oxygen nadir of 70%, transcutaneous CO2 peak of 57mmHg with obstructive events eliminated with BPAP of 24/14 cmH20 and hypoxemia treated with 4L supplemental oxygen. With adequate respiratory support with sleep combined with PH monotherapy, repeat echocardiogram prior to discharge showed improved systolic function and only mild septal flattening. Conclusion It is unclear the prevalence of PH in patients with PWS independent of OSA, however it is likely increased overall secondary to the increased prevalence of OSA. As a result, patients with PWS may benefit from routine interval echocardiogram to monitor for signs of PH. Support (if any):

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