Prader-Willi syndrome is a classical hypothalamic insufficiency disorder. This syndrome is often associated with cardiovascular morbidity and mortality - which could probably be attributed to autonomic dysfunction. A 21-year-old Prader Willi syndrome patient was referred for cardiovascular and autonomic function assessment. We performed a battery of tests assessing vascular structure (carotid intima thickness), vascular function (arterial stiffness indices), baroreflex sensitivity (overall integrator of short term regulation of blood pressure), blood pressure variability and autonomic tone (heart rate variability) along with autonomic reactivity tests. We observed impaired baroreflex sensitivity along with orthostatic tachycardia with normal vascular function tests. Prader- Willi syndrome patient have baroreflex dysfunction with probable afferent and/ central autonomic neural defects.
Keywords: Arterial stiffness; Autonomic dysfunction; Carotid intima thickness.