J Neurogastroenterol Motil.
2012 Jan;18(1):58-63.
The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia: A Pilot Study
- Affiliations
-
- 1Division of Gastroenterology, Yonsei University College of Medicine, Seoul, Korea. hjpark21@yuhs.ac
- 2Division of Cardiology, Yonsei University College of Medicine, Seoul, Korea.
- 3Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
- 4Cardiovascular Genome Center, Yonsei University Medical Center, Seoul, Korea.
Abstract
- BACKGROUND/AIMS
SCN5A encodes the cardiac-specific NaV1.5 sodium channel, and Brugada syndrome is a cardiac conduction disorder associated with sodium channel alpha-subunit (SCN5A) mutation. The SCN5A-encoded NaV1.5 channel is also found on gastrointestinal smooth muscle and interstitial cells of Cajal. We investigated the relationship between functional dyspepsia (FD) and SCN5A mutation to evaluate sodium channelopathy in FD.
METHODS
Patients with Brugada syndrome or FD were examined using upper endoscopy, electrogastrography (EGG), FD symptom questionnaire based on Rome III criteria and genetic testing for SCN5A mutation. Symptom scores of FD and EGG findings were analyzed according to SCN5A mutation.
RESULTS
A total of 17 patients (4 Brugada syndrome and 13 FD) participated in the study. An SCN5A mutation was noted in 75.0% of the patients with Brugada syndrome and in 1 (7.7%) of the patients with FD. Of 4 patients with SCN5A mutation, 2 (50%) had FD. Postprandial tachygastria and bradygastria were noted in 2 (50%) and 1 (25%) of the patients with SCN5A mutation, respectively. The EGG findings were not significantly different between positive and negative mutation in 17 patients.
CONCLUSIONS
Although we did not find statistically significant results, we suggest that it is meaningful to attempt to identify differences in symptoms and gastric myoelectric activity according to the presence of an SCN5A mutation by EGG analysis. The relationship between FD and sodium channelopathy should be elucidated in the future by a large-scale study.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Family with A Missense Mutation in the SCN5A Gene
- Childhood Brugada Syndrome in Two Korean Families
- Requirement of βsubunit for the reduced voltage-gated Na+ current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A
- Pathogenesis of Sudden Manhood Death Syndrome
- A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia
