Genetic variants in acetylcholine processing and significant improvement with pyridostigmine in a patient with postural orthostatic tachycardia syndrome: a case report
We hypothesize that genetic variants in acetylcholine processing may result in acetylcholine deficiency state and may represent one of many pathophysiologic mechanisms of POTS. Whole genome sequencing and validated genetic tests for these and other genetic variants may be valuable diagnostic tools in delineating specific pathophysiology, POTS phenotypes, and personalized treatment approaches.
Authors
- Svetlana Blitshteyn (ORCID: https://orcid.org/0000-0002-3982-2031)
- B. L. Foster
- Karen M. Stephenson (ORCID: https://orcid.org/0000-0002-1961-3304)
Institutions
- Dysautonomia Foundation (US)
- Jacobs Institute (US)
- University at Buffalo, State University of New York (US)
- University of Montana (US)
Publication Details
- Journal
- European Heart Journal - Case Reports
- Published
- 2026-01-21
- DOI
- https://doi.org/10.1093/ehjcr/ytag033
- Primary Topic
- Cardiovascular Syncope and Autonomic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00