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Anesthetic implications of the DSP gene mutation in the Delaware Amish
Dissertation   Open access

Anesthetic implications of the DSP gene mutation in the Delaware Amish

Mary Katherine Troyer
Doctor of Nursing Practice (D.N.P.), Drexel University
Jun 2026
DOI:
https://doi.org/10.17918/00011293
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PDFOpen Access (License Unspecified),  Open Access

Abstract

Desmoplakin gene mutation Amish community Arrhythmogenic cardiomyopathy
Genetically isolated Amish populations often have an increased prevalence of genetic abnormalities. Specifically in the Delaware Amish, there is an increased incidence of the Desmoplakin (DSP) gene mutation, which has been associated with arrhythmogenic cardiomyopathy and sudden cardiac death. Despite clinical exposure to Amish patients, anesthesia providers may lack awareness of these population-specific genetic risks. This quality improvement project utilized a PICOT framework to evaluate anesthesia providers and nurse anesthesia students practicing in Delaware who received a targeted educational intervention on DSP-associated cardiac risk in the Amish population. A pre-post design assessed changes in knowledge and self-reported confidence immediately before and after the intervention. Nonparametric analysis using the Wilcoxon signed-rank test demonstrated a statistically significant increase in confidence (Z = -4.888, p < .001), while the McNemar test revealed significant improvements in knowledge-based responses (p < .05). Overall knowledge scores also improved significantly (Z = -4.878, p < .001). These findings support the effectiveness of targeted educational interventions in improving anesthesia provider knowledge and confidence regarding DSP-related risk, with important implications for perioperative assessment, anesthetic management, and patient safety in high-risk Amish populations.

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