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Report for Mutation T117S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Improvement in Endothelial Dysfunction After Initiation of Anti-arrhythmic Therapy in Atrial Fibrillation Patients

This is a prospective, observational study that will examine endothelial dysfunction in atrial fibrillation before and after treatment with anti-arrhythmic agents and the extent to which baseline endothelial dysfunction improves after treatment.

NCT04128878 Atrial Fibrillation Drug: Sotalol Drug: Dofetilide
MeSH: Atrial Fibrillation
HPO: Atrial fibrillation Paroxysmal atrial fibrillation

Whether missense mutation in Cyb5R3 T117S can predict atrial fibrillation recurrence.. null. --- T117S ---

Whether missense mutation in Cyb5R3 T117S is correlated with atrial fibrillation severity.. null. --- T117S ---

Primary Outcomes

Description: Change in microvascular endothelium dependent dilation (in response to acetylcholine) assessed with laser speckle contrast imaging after initiating antiarrhythmic medical therapy.

Measure: Change in microvascular endothelium dependent dilation following anti-arrhythmic therapy as measured in perfusion units

Time: 1 year

Secondary Outcomes

Measure: Correlation between microvascular endothelial dysfunction measured at baseline and atrial fibrillation recurrence.

Time: 1 year

Measure: Correlation between microvascular endothelial function improvement with antiarrhythmic medications and atrial fibrillation recurrence.

Time: 1 year

Measure: Correlation between microvascular endothelial function and atrial fibrillation severity represented by left atrial size and type of Afib (paroxysmal vs persistent).

Time: 1 year

Measure: Change in other vasodilation dysfunction indices measured after initiating antiarrhythmic medical therapy.

Time: 1 year

Measure: Correlation between vasodilation dysfunction indices measured at baseline and atrial fibrillation recurrence.

Time: 1 year

Measure: Whether missense mutation in Cyb5R3 T117S can predict atrial fibrillation recurrence.

Time: 1 year

Measure: Whether missense mutation in Cyb5R3 T117S is correlated with atrial fibrillation severity.

Time: 1 year


HPO Nodes


Paroxysmal atrial fibrillation
Genes 12
KCNJ5 SCN5A CSRP3 KCNA5 KCNJ2 SCN2B MYL4 ABCC9 TBX5 KCNE2 SCN1B PRKAG2