Analysis on the Correlation Between ECG Parameters and Cardiac Function in Severe Triple Coronary Vessel Disease Patients Without Myocardial Infarction / 中国循环杂志

Objectives:To analyze the correlation between systolic cardiac insufficiency and ECG parameters of patients with triple-vessel disease(left anterior descending artery, left circumflex artery and right coronary artery showed ≥ 70% of diameter stenosis), but without history of myocardial infarction. Methods: A total of 96 triple-vessel disease patients without prior myocardial infarction who underwent coronary angiography examination between 2017-03-01 and 2017-07-05 in Zhongshan hospital were recruited in this study. According to LVEF, patients were divided into the normal cardiac function group (78 patients with LVEF ≥ 50%) and the reduced LVEF group (18 patients with LVEF < 50%). The Receiver Operating Characteristic (ROC) curve was applied to test optimal cut-off value of the ECG parameters and logistics regression analysis was utilized to determine the correlation between ECG indices with cardiac insufficiency. Results: A small percentage (18.8%) triple-vessel disease patients without prior myocardial infarction developed cardiac insufficiency. QRS duration, QTc duration were all significantly increased in patients with cardiac dysfunction) compared with patients with normal cardiac function (P < 0.05). ROC curve indicated good predictive efficacy to systolic cardiac insufficiency with HR > 70.5 bpm (sensitivity 81.3%, specificity 58.9%), QRS > 97.5 ms(sensitivity 82.4%, specificity 67.5%), QTc > 425 ms (sensitivity 93.8%, specificity 41.1%). Logistic multivariate regression analysis showed that QRS >97.5 ms(OR=7.577, 95%CI:1.094~52.490,P =0.030) was significantly correlated with systolic cardiac insufficiency. Conclusions: For triple-vessel disease patients without prior myocardial infarction, wider QRS in the resting ECG may indicate cardiac insufficiency.

Identification of gene mutation associated with familial dilated cardiomyopathy by whole-exome sequencing / 复旦学报（医学版）

Objective To identify the disease-causing gene in a Chinese pedigree with familial dilated cardiomyopathy (DCM) by whole-exome sequencing.Methods After collecting the clinical data and extracting the whole blood genomic DNA of the 5 family members form a Chinese DCM pedigree,whole-exome sequencing was performed to search the causative genes.Familial co-segregation analysis among the pedigree was subsequently confirmed by traditional Sanger sequencing.Results We performed whole exome sequencing (WES) on representative affected individuals and unaffected familial members from this pedigree.After comparison with variants identified in affected individuals and unaffected individuals,along with previously reported genetic mutations associated with DCM,we found that a heterozygous variant c.961 C＞T (p.Arg321Ter) in exon 6 of the LMNA gene in affected individuals matched the criteria to be the potential disease-causing gene,which was confirmed by Sanger sequencing.This stop-gain mutation leads to only a small part of LMNA-coding protein expressed,therefore we concluded that LMNA c.961 C＞T should be the causative mutation for this familial DCM case.Conclusions The nonsense mutation c.961 C＞ T in gene LMNA identified by whole-exome sequencing might be the pathogenic mutation in this DCM pedigree.

Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients / 中华心血管病杂志

<p><b>OBJECTIVE</b>To detect gene mutations associated with hypertrophic cardiomyopathy (HCM) in Chinese patients and possible correlations between genotype and phenotype.</p><p><b>METHODS</b>Twenty-one unrelated patients with hypertrophic cardiomyopathy were studied. The clinical data including symptoms, physical examination, echocardiography and electrocardiography were collected. The full ecoding exons of cardiac myosin-binding protein C gene (cMYBPC3) were amplified with PCR and the products were sequenced.</p><p><b>RESULTS</b>Two mutations were identified in probands from two families. One mutation was frame shift mutation Pro1208fs in the exon 32 of the cMYBPC3 gene. Pro1208fs mutation was identified in a 59 years old female patient with familial hypertrophic cardiomyopathy. Symptom onset was late and a favorable clinical course was evidenced in this patient. Another mutation was missence mutation Gly507Arg in the exon 17 of the MYBPC3 gene identified in a 24 years old male patient. Diffuse thickness of left ventricular wall, impaired diastolic function and enlarged left atria were evidenced in echocardiography. No mutation was identified in the 80 control healthy individuals.</p><p><b>CONCLUSION</b>cMYBPC3 might be the disease-causing genes in Chinese patients with hypertrophic cardiomyopathy.</p>