Is KCNH1 mutation related to coronary artery ectasia

Mohammad Rafi Noori,Lifei Pan,Bo Zhang

doi:10.1186/s12872-019-01276-4

Abstract

BackgroundCoronary artery ectasia (CAE) is an uncommon finding in patients undergoing coronary angiography and acute myocardial infarction is an extremely uncommon condition in the presence of coronary artery ectasia. To date, 50 gene variants associated with coronary artery disease have been identified, but none appear to be related to coronary artery ectasia.Case presentationThis is a rare case of Coronary artery ectasia which is considered to be related to Gene variations in potassium voltage-gated channel subfamily H member 1, KCNH1 (encoding a protein designated ether à go-go, EAG1 or KV10.1).ConclusionOccurrence of Acute myocardial infarction in patient with coronary artery ectasia after diarrhea is a very rare condition and involvement of KCNH1 gene mutation which is described in this case report.

Highlights

Coronary artery ectasia (CAE) is an uncommon finding in patients undergoing coronary angiography and acute myocardial infarction is an extremely uncommon condition in the presence of coronary artery ectasia
The patient was admitted to our hospital and diagnosed with firstdegree atrioventricular conduct block and coronary artery ectasia, which was conservatively treated with aspirin (100 mg/qd, atorvastatin 20 mg/qd) on a routine basis
CAE is only observed in 5% patients undergoing coronary angiography

Summary

Introduction

Coronary artery ectasia (CAE) is an uncommon finding in patients undergoing coronary angiography and acute myocardial infarction is an extremely uncommon condition in the presence of coronary artery ectasia. Angina pectoris is the most common clinical manifestation [3] while acute myocardial infarction is an extremely uncommon condition in the presence of coronary artery ectasia, detected only in < 1% cases [4]. We have reported a rare case of acute myocardial infarction with coronary artery ectasia and mutation in potassium voltage-gated channel subfamily H member 1, KCNH1 (encoding a protein designated ether à go-go, EAG1 or KV10.1) gene.

Results

Conclusion