Objective To analyze the clinical characteristics of patients with acute myocardial infarction (AMI) in Zepu county of Xinjiang Uygur Autonomous Region.Methods From February 2013 to January 2017,153 AMI patients hospitalized in emergency ICU of People''s Hospital of Zepu County of Xinjiang Uygur Autonomous Region were collected.The population characteristics,clinical manifestations,laboratory examinations,prognosis and complications were retrospectively analyzed and summarized.ResultsThe average age of AMI patients was 57.1 years old,included 133 cases (86.9％) ST-segment elevation myocardial infarction (STEMI),non ST elevation myocardial infarction (NSTEMI) patients were 20 cases (13.1％),most patients with chest pain (92.8％) and chest congestion(85.6％) symptoms.Anterior wall STEMI patients were 45 cases (33.8％),inferior wall infarction were 27 cases (20.3％),anteroseptal infarction were 15 cases (11.3％).73 patients were treated with thrombolysis,the recanalization rate was 93.2％.The cardiogenic shock complication occurred in 12 cases (7.8％) during hospitalization,12 cases (7.8％) were concurrent with Killip level 3 or higher heart failure,10 cases (6.5％) were concurrent with ventricular fibrillation.The onset age between Han nationality and Uygur nationality patients was significantly different (t=6.82),the onset age of Uygur nationality was younger than the Han nationality.There were no statistically significant differences between the two groups in sex,blood sugar level,cholesterol level,triglyceride level,high density lipoprotein level,low density lipoprotein level (χ2=0.02,P＞0.05;t=0.86,0.65,1.14,0.23,0.27,all P＞0.05).Conclusion The population features,clinical manifestations,disease courses and therapeutic effects of the AMI patients in Zepu county of Xinjiang Uygur Autonomous Region have certain characteristics,understanding these characteristics is beneficial for treating the disease.

Objective:To investigate the relationship between double mutations of myosin heavy chain gene (MYH6) p.Gly743Arg and p.Glu1389Lys and the cardiac phenotype.Methods:Patients carrying double mutations in the MYH6 gene p.Gly743Arg and p.Glu1389Lys were screened from 52 unrelated left ventricular hypertrophy (LVH) who were admitted to the Second Hospital of Chongqing Medical University from 2015 to 2020, and the genetic testing of peripheral blood of patients by second-generation whole-exome sequencing assay technology and genomic DNA of their family members Sanger sequencing was performed to validate the genomic DNA of the family members. The cardiac phenotype was evaluated by electrocardiogram, coronary computed tomography angiography (CTA), echocardiography, and cardiac magnetic resonance imaging (MRI) as adjuncts.Results:All whole-exome gene were detected in 52 unrelated patients with LVH, of which 1 patient (1.9%) had double mutations in MYH6 gene p.Gly743Arg and p.Glu1389Lys (proband). Two members of the maternal line of this patient carried p.Glu1389Lys mutation, but there was no obvious clinical phenotype. Two members of the paternal line carried p.Gly743Arg mutation and had obvious clinical phenotype of bradycardia, but there was no LVH. The male proband, aged 21 years old, presented with LVH and sinus bradycardia but no coronary artery stenosis on CTA before treatment, MRI showed that the left ventricular end diastolic diameter was 58 mm. After treatment with angiotensin receptor-enkephalinase inhibitor (ARNI), electrocardiogram showed that the heart rate increased significantly (from 43 bpm to 72 bpm). Echocardiography showed that the left ventricular end diastolic diameter decreased significantly (from 60 mm to 49 mm).Conclusions:The p.Glu1389Lys mutation of the MYH6 gene may not manifest the phenotype of heart disease. MYH6 gene p.Gly743Arg mutation may be manifested asymptomatic sinus bradycardia, but there is no LVH phenotype. The cardiac disease phenotype caused by the double mutations of p.Gly743Arg and p.Glu1389Lys in the MYH6 gene is more obvious. Asymptomatic LVH and sinus bradycardia can appear in adolescence, but the LVH phenotype can be reversed in a short period of time after ARNI treatment.