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WJC 6~th Anniversary Special Issues(3):Cardiomyopathy Hypertrophic cardiomyopathy in 2013:Current speculations and future perspectives

查看全文 作　　者：Georgios K [1]Efthimiadis;Efstathios D [1]Pagourelias;Thomas [1]Gossios;Thomas [1]Zegkos 高影响力作者 机构地区：[1]Cardiomyopathies Center,First Cardiology Department,AHEPA University Hospital,Medical School,Aristotle University of Thessaloniki高影响力机构 出　　处：《World Journal of Cardiology》索引2014年第6卷第2期,共12页高影响力期刊 摘　　要：Hypertrophic cardiomyopathy(HCM),the most variable cardiac disease in terms of phenotypic presentation and clinical outcome,represents the most common inherited cardiomyopathic process with an autosomal dominant trait of inheritance.To date,more than 1400 mutations of myofilament proteins associated with the disease have been identified,most of them 'private' ones.This striking allelic and locus heterogeneity of the disease certainly complicates the establishment of phenotype-genotype correlations.Additionally,topics pertaining to patients' everyday lives,such as sudden cardiac death(SCD)risk stratification and prevention,along with disease prognosis,are grossly related to the genetic variation of HCM.This review incorporates contemporary research findings and addresses major aspects of HCM,including preclinical diagnosis,genetic analysis,left ventricular outflow tract obstruction and SCD.More specifically,the spectrum of genetic analysis,the selection of the best method for obstruction alleviation and the need for a unique and accuratefactor for SCD risk stratification are only some of the controversial HCM issues discussed.Additionally,future perspectives concerning HCM and myocardial ischemia,as well as atrial fibrillation,are discussed.Rather than enumerating clinical studies and guidelines,challenging problems concerning the disease are critically appraised by this review,highlighting current speculations and recommending future directions. 关 键 词：HYPERTROPHIC CARDIOMYOPATHY PRECLINICAL diagnosis Left ventricular OUTFLOW obstruction SUDDEN cardiac death Genetic analysis
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