What is POTS?
POTS is a clinical syndrome that falls under the umbrella of dysautonomic conditions. This means that the symptoms arise from dysregulation of the autonomic nervous system. POTS is characterized by a rapid increase in heart rate upon standing up, and symptoms are often relieved by lying down again. A common “diagnostic test” is the tilt-table test, as shown in the image to the right.
Why Study POTS?
Really, it’s been CHARGE families that have encouraged Dr. Blake and her team to look into POTS and dysautonomia further.1 After hearing the one family’s story at the 2017 International CHARGE Syndrome Conference, Dr. Blake looked into POTS within her own practice. One case of clinically conﬁrmed POTS provoked further investigation, and POTS is now the subject of ongoing research at the IWK Hospital in Halifax, NS. We strongly believe that understanding this condition and how it presents in CHARGE Syndrome will have a signiﬁcant impact on the management of CHARGE and improve the quality of life of those who may be experiencing it. Preliminary Research Following the initial case report, a questionnaire was designed in order to investigate the prevalence of POTS-associated symptoms within the CHARGE syndrome population. This questionnaire included both a summary of CHARGE related features, and a “checklist” of POTS symptoms and severity. This questionnaire was piloted at the 2019 International CHARGE Syndrome Conference in Dallas, Texas. A total of 12 individuals took part in the study, and a summary of the POTS-related results is presented below:
- 4 out of 12 reported increased heart rate, or a racing heart
- “sometimes” or “often”
- 3 out of 12 reported light-headedness sometimes or often
- 7 out of 12 reported fatigue sometimes or often
- 6 out of 12 reported upset stomach sometimes or often
- 8 out of 12 reported trouble passing stool
- • 10 out of 12 reported that being in the heat makes them feel sick
If you have any questions, do not hesitate to reach out to Dr. Kim Blake, or her research student, Julia Morrison at firstname.lastname@example.org
Lily Slavin (left) and Lucas (centre) Julia Morrion(right).
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