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Is KCNH1 mutation related to coronary artery ectasia.
BMC Cardiovascular Disorders ( IF 2.0 ) Pub Date : 2019-12-17 , DOI: 10.1186/s12872-019-01276-4
Mohammad Rafi Noori 1 , Bo Zhang 1 , Lifei Pan 1
Affiliation  

BACKGROUND 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. To date, 50 gene variants associated with coronary artery disease have been identified, but none appear to be related to coronary artery ectasia. CASE PRESENTATION This 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). CONCLUSION Occurrence 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.

中文翻译:

是KCNH1突变与冠状动脉扩张有关。

背景技术在进行冠状动脉造影的患者中,冠状动脉扩张(CAE)是不常见的,并且在存在冠状动脉扩张的情况下,急性心肌梗塞是极为罕见的情况。迄今为止,已经鉴定出50种与冠状动脉疾病相关的基因变体,但似乎都与冠状动脉扩张无关。病例表述这是一种罕见的冠状动脉扩张症,被认为与钾电压门控通道亚家族H成员1 KCNH1的基因变异有关(编码一种名为ether-go-go,EAG1或KV10.1的蛋白质)。结论腹泻后冠状动脉扩张症患者发生急性心肌梗塞是非常罕见的情况,并且涉及该病例报告中所述的KCNH1基因突变。
更新日期:2019-12-18
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