title: [Ultrastruktural diagnosis of hypertrophic kardiomyopathy with β-aktin mutation in sudden death - case report].
abstract: BACKGROUND
  Light microscopy and electron microscopy rank among methods to diagnose of cardiomyopathy in forensic medicine, and, recently, the methods of molecular biology.
  
  
  METHODS
  Investigation of 27 year old man who collapsed on his way to work. The Rescuers did not succeed resuscitation of vital function. Samples were H-E stained and processed for the electron microscopy. RNA was isolated from the tissue for the alpha, beta, gama actine primer investigation.
  
  
  RESULTS
  By H-E staining we proved irregular hypertrophic cardiomyocytes (disarray) with the links and loci patches of thin fibrosis. Ultrastructurally we diagnosed a disarray of Z-bands, accumulation of mitochondria, rectangular nuclei of cardiomyocytes. We have detected rare plasmocytes and leucocytes with specific granules in cytoplasma. In the electronogrames we can see myofibriles oriented longitudinally and transversally. A genetic examination demonstrated beta actin mutation.
  
  
  CONCLUSIONS
  Cardiomyopathy can be a cause of sudden and unexpected death in young individuals and its diagnostics requires an interdisciplinary collaboration.
  
  
  BACKGROUND
  Sudden and unexpected death - hypertrophic cardiomyopathy - ultrastructure of cardiomyocyte - gene mutation.
authors.forename: David
authors.initials: D
authors.lastname: Vajtr
authors.forename: Libor
authors.initials: L
authors.lastname: Staněk
authors.forename: Marek
authors.initials: M
authors.lastname: Dogoši
authors.forename: Oldřich
authors.initials: O
authors.lastname: Benada
authors.forename: Přemysl
authors.initials: P
authors.lastname: Strejc
authors.forename: Pavel
authors.initials: P
authors.lastname: Dundr