Successful Treatment of Heart Failure in an Adult Patient with Prader-Willi Syndrome

Abstract

Prader-Willi Syndrome (PWS) is a rare genetic disorder characterized by physical, psychological and physiological abnormalities. Obesity and related cardiovascular diseases are a common problem in adult patients with PWS. This report describes a case of adult PWS with heart failure associated with marked obesity and sleep-disordered breathing that was successfully treated with oxygen therapy, adaptive servoventilation, medications, diet therapy and rehabilitation.

Body composition and obstructive sleep apnoea assessment in adult patients with Prader–Willi syndrome: a case control study

“…In particular, both Insulin-like growth factor-I levels and nocturnal oxygen desaturation were main significant predictors of left ventricle mass and heart rate in PWS patients [ 38 ]. To further underline the bidirectional link between OSAS and cardiovascular disease in PWS, it is reported in the literature that the use of adaptive servoventilation can improve the prognosis in case of heart failure in PWS secondary to sleep-disordered breathing [ 55 ]. These data supported to include the diagnosis and therapy of OSAS in the prevention of cardiovascular risk in PWS.…”

Long-term Echocardiographic and Cardioscintigraphic Effects of Growth Hormone Treatment in Adults With Prader-Willi Syndrome

“…Finally, studies in adults with PWS disclosed the existence of early vascular changes in the forearm microcirculation (18), decreased chronotropic and inotropic response to ␤-adrenergic stimulus (19), impaired autonomic regulation (37), increased risk of sleep apnea as well as abnormal arousal and impaired cardiorespiratory responses to hypoxia (38). In frail PWS individuals, these abnormalities can provoke cardiorespiratory failure necessitating treatment by oxygen therapy, adaptive servoventilation, medications, diet therapy and rehabilitation (39). Although current data necessarily warrant confirmation in larger prospective investigations, we are inclined to consider GH treatment as a valid supportive care for long-term cardiovascular stability in PWS, which is chronically linked to increased cardiovascular risk.…”