title: Autopsy findings in siblings with hypertrophic cardiomyopathy caused by Arg92Trp mutation in the cardiac troponin T gene showing dilated cardiomyopathy-like features.
abstract: BACKGROUND
  Hypertrophic cardiomyopathy (HCM) is caused by mutations in the genes that encode sarcomeric proteins. Although some patients with HCM have shown dilated cardiomyopathy (DCM)-like features, the relationship between genotype and histologic findings is not well known.
  
  
  OBJECTIVE
  Family members with the same gene mutation may show the same histopathologic changes and clinical manifestations.
  
  
  METHODS
  Siblings with HCM caused by an Arg92Trp mutation in the cardiac troponin T gene, showing DCM-like features, were examined.
  
  
  RESULTS
  The patients were a 69-year-old woman and her 57-year-old brother who both died from congestive heart failure. Their autopsies revealed the same histopathologic findings in the heart. The anterior walls and interventricular septa of their hearts were replaced with extensive fibrosis and showed thinning. Myocyte hypertrophy, disarray, and thickened medial walls of the intramural coronary arteries were found. On electron microscopy, the number of mitochondria was seen to be increased and they formed many clusters.
  
  
  CONCLUSIONS
  Patients with HCM caused by an Arg92Trp mutation in the cardiac troponin T gene may have the same histopathologic findings, which may result in DCM-like features.
authors.affiliation: Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan. shimizu@med.kanazawa-u.ac.jp
authors.forename: Masami
authors.initials: M
authors.lastname: Shimizu
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Ino
authors.forename: Masato
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Hidenobu
authors.initials: H
authors.lastname: Terai
authors.forename: Katsuharu
authors.initials: K
authors.lastname: Uchiyama
authors.forename: Masaru
authors.initials: M
authors.lastname: Inoue
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Ikeda
authors.forename: Atsuhiro
authors.initials: A
authors.lastname: Kawashima
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
mesh_terms: D000368:Aged; D001120:Arginine / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000473:pathology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009206:Myocardium / Q000473:pathology; D020107:Troponin T / Q000235:genetics*; D014357:Trypsin / Q000235:genetics
chemical_list: D020107:Troponin T; D001120:Arginine; D014357:Trypsin