Physiological, biological and genetic abnormalitities associated with the postural tachycardia syndrome

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Postural Orthostatic Tachycardia Syndrome (POTS) is a clinical syndrome characterized by the development of excessive tachycardia (heart rate increases by 30 beats or more per min) when the upright position is assumed. The condition is accompanied by weakness, dizziness, presyncope or fainting. POTS has only recently come to international medical attention as the number of patients with the condition is steadily rising. The symptoms and ongoing disability in POTS appear to primarily result from a supernormal reflex sympathetic activation on standing, in ways which are readily apparent for some symptoms, such as tachycardia, but obscure for others, such as postural syncope in the absence of postural hypotension. Poorly defined diagnostic criteria and the likelihood of multiple causes have made it difficult to clarify the underlying pathophysiology of POTS. In this project I will investigate the sympathetic nervous system response to head-up tilt in patients with POTS as well as possible genetic and epigenetic mechanisms which might underpin the syndrome. Preliminary results are encouraging and merit to be taken further.