Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients. Circulation 134, e579–e646.īrofferio, A., Sachdev, V., Hannoush, H., Marshall, J.D., Naggert, J.K., Sidenko, S., Noreuil, A., Sirajuddin, A., Bryant, J., Han, J.C., et al. Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association. C., Francis, G.S., Lenihan, D., Lewis, E.F., McNamara, D.M., et al. To conclude, we mapped a comprehensive atlas of genetic risks in Chinese patients with DCM that might lead to new insights into the mechanisms and risk stratification for DCM.īozkurt, B., Colvin, M., Cook, J., Cooper, L.T., Deswal, A., Fonarow, G. In terms of cardiac function, the mean left ventricular ejection fraction of patients with the deleterious variants was lower than those without (27.73%☑0.02% vs. Also, DCM in the high-risk group had a younger age of onset than that in the low-risk group.
Of note, in the cumulative risk model, high-risk subjects had a 3.113-fold higher risk of developing DCM than low-risk subjects. Other than rare variants, twelve common SNPs were significantly associated with an increased risk of DCM in allele-based genetic model association analysis. Furthermore, rare missense variants in 21 genes were found to be significantly associated with DCM in burden tests. The deleterious variants can account for 25.07% (91/363) of all patients. In total, we identified 26 loss-of-function (LOF) candidates and 66 pathogenic variants from 33 genes, most of which were novel. Whole-exome sequencing and phenotypic characterization were conducted. To reveal genetic risks of early-onset sporadic dilated cardiomyopathy (DCM) patients in the Chinese Han population, we enlisted 363 DCM cases and 414 healthy controls.
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