title: Noncompaction in mitochondrial myopathy: visible on microscopy but absent on macroscopic inspection.
abstract: OBJECTIVE
  Disappearance of left ventricular hypertrabeculation (LVHT) over time has been occasionally recognized, but absence on echocardiography and autopsy and presence on histological examination after autopsy has not been reported.
  
  
  METHODS
  Routine investigations such as chocardiography, cardiac MRI and coronary angiography were applied. Autopsy studies included macroscopic inspection and dissection but also histological work-up.
  
  
  RESULTS
  In a 64-year-old male, LVHT was diagnosed at age 51 years during diagnostic work-up for hypertrophic cardiomyopathy. He had a history of mitochondrial myopathy which was diagnosed long before the cardiac problem became evident. Thickening of the left ventricular myocardium increased over years, resulting also in thickening of the trabeculations and the disappearance of the intertrabecular recesses. This is why LVHT was no longer visible on echocardiography shortly before death at age 64 years. The autopsy revealed that macroscopically no LVHT was visible but upon histological work-up the preformed recesses were still visible but had become unfolded.
  
  
  CONCLUSIONS
  This case shows that LVHT may disappear due to thickening of the trabeculations but may remain visible on postmortem histological examination in patients with hypertrophic cardiomyopathy from a mitochondrial myopathy.
authors.affiliation: 2nd Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria. igs1@yahoo.de
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Claudia
authors.initials: C
authors.lastname: Stöllberger
authors.forename: Martin
authors.initials: M
authors.lastname: Grassberger
authors.forename: Daniel
authors.initials: D
authors.lastname: Gerger
mesh_terms: D004452:Echocardiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D017240:Mitochondrial Myopathies / Q000000981:diagnostic imaging / Q000473:pathology*; D009206:Myocardium / Q000473:pathology*