title: Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.
abstract: OBJECTIVE
  Isolated left ventricular noncompaction (ILVNC) is a rare congenital cardiomyopathy characterized by numerous excessive trabeculations and deep intertrabecular recesses. To date, the clinical features and genetic causes of ILVNC remain unclear. Here, we report the clinical presentation and genetic analysis of a five generation Chinese family with ILVNC.
  
  
  METHODS
  For this study, 21 living family members were recruited. Each individual underwent a detailed clinical examination for ILVNC. Peripheral blood samples were collected for direct gene sequencing to determine any mutations in the known disease-causing genes of ILVNC, which include the genes TAZ, DTNA, LDB3, LMNA and FKBP12.
  
  
  RESULTS
  Classic echocardiographic presentation of ILVNC was identified in the proband who had his first onset of heart failure at age 52. His 28-year-old son and 26-year-old daughter showed similar heart anomalies as their father. Although they had no symptoms to date, depressed ventricular systolic function was noted in both of them. Pedigree analysis suggested an autosomal domain mode of inheritance. DNA sequencing found no mutation in the known disease-causing genes of ILVNC. Interestingly, two other members of the family, the proband's wife (also his first cousin) and her sister had classic echocardiographic presentation of hypertrophic cardiomyopathy (HCM).
  
  
  CONCLUSIONS
  A single Chinese family with ILVNC associated with HCM is reported; no mutations in TAZ, DTNA, LDB3, LMNA and FKBP12 was found.
authors: Department of Cardiology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China.
authors: Shudong
authors: S
authors: Xia
authors: Hongxia
authors: H
authors: Wang
authors: Xiaoliang
authors: X
authors: Zhang
authors: Jianhua
authors: J
authors: Zhu
authors: Xiaoli
authors: X
authors: Tang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D009202:Cardiomyopathies / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000000981:diagnostic imaging* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D011859:Radiography; D017422:Sequence Analysis, DNA / Q000379:methods