title: Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy.
abstract: Left ventricular noncompaction cardiomyopathy (LVNC) is a myocardial disorder characterized by prominent and excessive trabeculations with deep recesses in the ventricular wall. Clinical manifestations of LVNC are highly variable, ranging from no symptoms to arrhythmias, heart failure, thromboembolism, or even sudden cardiac death. It is a heterogenetic disease which can be presented as an autosomal, X-linked or mitochondrial disorder. A series of candidate mutations have been identified in LVNC patients or murine models. It is generally believed that these gene mutations may share a final common pathway in the pathogenesis of LVNC, but the underlying molecular mechanisms are unknown. In this review, we discuss the gene mutations identified in LVNC patients and summarize recent advancements in the molecular genetic analysis of LVNC.
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: xueqidong@hotmail.com.
authors.forename: Xueqi
authors.initials: X
authors.lastname: Dong
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: fanpeng126pumc@126.com.
authors.forename: Peng
authors.initials: P
authors.lastname: Fan
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: tiantaophd@163.com.
authors.forename: Tao
authors.initials: T
authors.lastname: Tian
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: yangyankun66@126.com.
authors.forename: Yankun
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: xyzmiss315103@sina.com.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xiao
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: kunqiyang@126.com.
authors.forename: Kunqi
authors.initials: K
authors.lastname: Yang
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: yaxinliu1978@hotmail.com.
authors.forename: Yaxin
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 167, Beilishi Road, Beijing 100037, China. Electronic address: zhouxianliang0326@hotmail.com.
authors.forename: Xianliang
authors.initials: X
authors.lastname: Zhou
mesh_terms: D000818:Animals; D019485:Bone Morphogenetic Proteins / Q000235:genetics; D004195:Disease Models, Animal; D054629:Genome, Mitochondrial; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D056830:Isolated Noncompaction of the Ventricular Myocardium / Q000175:diagnosis / Q000235:genetics*; D051379:Mice; D009154:Mutation; D063151:Polycomb Repressive Complex 2 / Q000235:genetics; D012518:Sarcomeres; D022021:Tacrolimus Binding Proteins / Q000235:genetics
chemical_list: D019485:Bone Morphogenetic Proteins; D007473:Ion Channels; D063151:Polycomb Repressive Complex 2; D022021:Tacrolimus Binding Proteins; C119152:Bmp10 protein, mouse; C093650:Jarid2 protein, mouse; C509259:FKBP1B protein, mouse
keywords: Gene mutations; Genetics; Left ventricular noncompaction; Noncompaction cardiomyopathy