A 29-year-old female patient with articulo-autonomic dysplasia was referred for further
evaluation and treatment of orthostatic intolerance and syncopy. The patient has suffered
from pre-syncopal symptoms from birth. The patient states that whenever she tries
to get up suddenly, she experiences black outs in both eyes, and if she would try
to walk a couple of steps, she actually would fall. The patient states that if she
would wait for a few seconds, then the blackout will go away and she can continue
normally. The patient started suffering from back pain at the age of fifteen. She
developed bilateral tingling and numbness in the legs. The patient was referred for
genome testing. On genome testing, there were significant mitochondrial variations
that might be associated with electron transport chain that converts oxygen to energy.
Metabolic stress testing performed to assess causes of shortness of breath showed
significantly reduced functional capacity. Respiratory Quotient is 1.14. Aortic Doppler
was performed and showed normal flow and no evidence of abdominal aortic aneurysm
or stenosis, QSweat is normal. Tilt table testing results were indicative of Postural
Orthostatic Tachycardia Syndrome. This is the first case report of Mitochondrial Disease
in a patient with Postural Orthostatic Tachycardia Syndrome (POTS).
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© 2015 Published by Elsevier Inc.
