Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with Dilated cardiomyopathy.@*METHODS@#A patient admitted to Beijing Anzhen Hospital Affiliated to Capital Medical University in April 2022 was selected as the study subject. Clinical data and family history of the patient was collected. Targeted exome sequencing was carried out. Candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#DNA sequencing revealed that the patient has harbored a heterozygous c.5044dupG frameshift variant of the FLNC gene. Based on the ACMG guidelines, the variant was predicted to be likely pathogenic (PVS1+PM2_Supporting+PP4).@*CONCLUSION@#The heterozygous c.5044dupG variant of the FLNC gene probably underlay the pathogenesis in this patient, which has provided a basis for the genetic counseling for his family.

Analysis of risk factors for adverse cardiac events in adults with acute myocarditis during hospitalization / 中华急诊医学杂志

Objective To analyze the risk factors of adverse cardiac events in adults with acute myocarditis during hospitalization and provide reference for clinical diagnosis and treatment.Methods A restrospective study was conducted in 80 patients (54 males and 26 females) with acute myocarditis over 18 years old admitted to our hospital between January 2007 and December 2016.Major adverse cardiac events (MACE) were defined as death,cardiac arrest,cardiogenic shock and ventricular fibrillation.According to whether MACE occurred during hospitalization,patients were divided into two groups:the MACE group and the non-MACE group.The differences between the two groups were compared,and the risk factors were analyzed by logistic regression.Results There were 12 patients in the MACE group and 68 patients in the non-MACE group.The age of patients in the two groups was similar.Compared with the non-MACE group,the proportion of female patient in the MACE group was higher (66.7％ vs 26.5％,P=0.015),and the systolic pressure (mmHg) was lower at admission (89.75±17.63 vs 112.49±16.35,P＜0.01),and the heart rate (beats/min) was faster (106.42±24.39 vs 82.66±20.92,P=0.001);ALT and creatinine levels in the MACE group were higher (P＜0.01),while the levels of TnI,CK-MB,CK and LDH were significantly higher (P＜0.05).The LVEF value of the MACE group was significantly lower at admission (45％ vs 60％,P=0.022),and the proportion of LVEF ＜ 50％ was also higher (58.3％ vs 19.1％,P=0.008) The proportion of prolonged QRS wave (＞120 ms) was significantly higher in the MACE group (75％ vs 17.6％,P＜0.01).In the MACE group,the proportion of diuretics and vasoactive drugs (dopamine,norepinephrine,and adrenaline) was higher (66.7％ vs 25％,91.7％ vs 4.4％,66.7％ vs 0,75％ vs 0％,all P＜0.01);the proportion of glucocorticoids and immunoglobulin was higher (33.3％ vs 8.8％,P=0.038;33.3％ vs 4.4％,P=0.008),and the proportion of ventilator,CRRT,ECMO and IABP were also higher (50％vs 1.5％,33.3％ vs 0,25％ vs 0％,25％ vs 0％,all P＜0.01).Logistic regression analysis showed that the OR value of MACE in female patients during hospitalization was 5.56 (95％CI:1.49-20.71,P=0.011).The OR value of MACE in patients with reduced LVEF at admission was 5.92 (95％CI:1.62-21.67,P=0.007).The OR value of MACE in patients with prolonged QRS wave was 14.00 (95％CI:3.29-59.55,P＜0.01).Conclusions Female patients,LVEF＜50％ at admission,and prolonged QRS wave (QRS＞120 ms) are independent risk factors for MACE in adult patients with acute myocarditis during hospitalization.

Clinical features comparison of ST segment elevation and non ST segment elevation in adult patients with acute myocarditis / 中华急诊医学杂志

Objective ST segment elevation in adult patients with acute myocarditis is rare in adult.The purpose of this study was to report the outcome of ST segment elevation in adult patients with acute myocarditis in our hospital,in order to provide reference for clinical diagnosis and treatment.Methods A retrospective analysis of Beijing Anzhen Hospital during January 2002 to December 2015 for the diagnosis of acute myocarditis were 105 cases,divided into two groups,one group of ST elevation (ST elevation group) total 57 cases,another group of non ST elevation (non ST elevation group) total 48 cases.The clinical features,laboratory examination,treatment and prognosis were compared between the two groups.The composite primary endpoint of major cardiovascular events (MACE) during hospitalization included:mortality,cardiac shock and ventricular fibrillation.Results The average onset age of patients with ST segment elevation group and non ST segment elevation group were similar [(27.7 ± 10.1) years vs.(28.7 ± 10.0) years,P =0.603].There was a significant difference between the two group in patients of heart rate [(89 ± 22) beats/min vs.(80 ± 23) beats/min,P =0.028],systolic blood pressure on admission [(105 ± 17) mmHg vs.(115 ± 17) mmHg,P =0.003],diastolic blood pressure on admission [(66 ± 11) mmHg vs.(74 ± 11) mmHg,P =0.000],and total number of acute fulminant myocarditis [20 (35.1％) vs.7 (14.6％),P =0.024)].ST segment elevation acute myocarditis patients were significantly more at risk for MACE than non ST segment elevation acute myocarditis patients during hospitalization (P =0.04).Conclusion ST segment elevation acute myocarditis has acute onset and rapid progression.The incidence of MACE during hospitalization was significantly high.Mechanical support can be ve,ry favourable.ST segment elevation acute myocarditis is associated with excellent short-term prognosis.