Clinical characteristics and one year outcomes in Chinese atrial fibrillation patients with stable coronary artery disease： a population-based study

Background Atrial fibrillation （AF） and coronary artery disease （CAD） often coexist, however, the clinical characteristics and the impact of stable CAD on the outcomes in Chinese patients with AF has not been well understood. Methods Consecutive AF patients in 20 hospitals in China from November 2008 to October 2011 were enrolled. The primary endpoints included 1-year all-cause mortality, stroke, non-central nervous system （non-CNS） embolism, and major bleeding. Results A total of 1947 AF patients were analyzed, of whom 40.5% had stable CAD. The mean CHADS2 scores in CAD patients were significantly higher than that of non-CAD patients （2.4 - 1.4 vs. 1.4 - 1.2, P 〈 0.001）. During follow-up period, warfarin use is low in both groups, with relatively higher proportion in non-CAD patients compared with CAD patients （22.3% vs. 10.7%, P 〈 0.001）. Compared with non-CAD patients, CAD patients had higher one-year all-cause mortality （16.8% vs. 12.9%, P = 0.017） and incidence of stroke （9.0% vs. 6.4%, P = 0.030）, while the non-CNS embolism and major bleeding rates were comparable between the two groups. After multivariate adjustment, stable CAD was independently associated with increased risk of 1-year all-cause mortality （HR = 1.35, 95% CI： 1.01-1 .80, P = 0.040）, but not associated with stroke （HR = 1.07, 95% CI： 0.72-1.58, P = 0.736）. Conclusions Stable CAD was prevalent in Chinese AF patients and was independently associated with increased risk of 1-year all-cause mortality. Chinese AF patients with stable CAD received inadequate antithrombotic therapy and this grim status of antithrombotic therapy needed to be improved urgently.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Background:Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations.Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia.Combined with genotype, it helps us precisely diagnose and treat for desminopathy.Methods:Sanger sequencing was used to characterize DES variation, and then a minigene assay was used to verify the effect of splice-site mutation on pre-mRNA splicing.Phenotypes were analyzed based on clinical characteristics associated with desminopathy.Results:A splicing mutation (c.735+1G>T) in DES was detected in the proband.A minigene assay revealed skipping of the whole exon 3 and transcription of abnormal pre-mRNA lacking 32 codons.Another affected family member who carried the identical mutation, was identified with a novel phenotype of desminopathy, non-compaction of ventricular myocardium.There were 2 different phenotypes varied in cardiomyopathy and skeletal myopathy among the 2 patients, but no significant correlation between genotype and phenotype was identified.Conclusions:We reported a novel phenotype with a splicing mutation in DES, enlarging the spectrum of phenotype in desminopathy.Molecular studies of desminopathy should promote our understanding of its pathogenesis and provide a precise molecular diagnosis of this disorder, facilitating clinical prevention and treatment at an early stage.