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A case report of Mitochondrial Disease in a patient with Postural Orthostatic Tachycardia Syndrome (POTS)

      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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