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Ultrastruktural diagnosis of hypertrophic kardiomyopathy with β-aktin mutation in sudden death – case report


Authors: Vajtr David 1;  Staněk Libor 2;  Dogoši Marek 1;  Benada Oldřich 3;  Strejc Přemysl 1;  Dundr Pavel 2
Authors place of work: Ústav soudního lékařství a toxikologie 1. LFUK a VFN 1;  Ústav patologie 1. LFUK a VFN 2;  AVČR, Laboratoř elektronové mikroskopie 3
Published in the journal: Soud Lék., 59, 2014, No. 2, p. 17-19
Category: Original Article

Summary

Introduction:
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.

Conclusion:
Cardiomyopathy can be a cause of sudden and unexpected death in young individuals and its diagnostics requires an interdisciplinary collaboration.

Keywords:
Sudden and unexpected death – hypertrophic cardiomyopathy – ultrastructure of cardiomyocyte – gene mutation.


Zdroje

1. Šteiner I. Patologie hypertrofické kardiomyopatie. Kardiofórum 2008; 6(2): 9-16.

2. Maron BJ, Fananapazir L. Sudden cardiac death in hypertrophic cardiomyopathy. Circulation 1992; 85(1 Suppl): 157-163.

3. Maron BJ, Roberts WC, McAllister HA, Rosing DR, Epstein SE. Sudden death in young athletes. Circulation 1980; 62(2): 218-229.

4. Elliott P, McKenna WJ. Hypertrophic cardiomyopathy. Lancet 2004; 363: 1881-1891.

5. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology 2004; 44(5): 412- 427.

6. Tomašov P. Genetika hypertrofické kardiomyopatie. Kardiofórum 2008; 6: 5-8.

7. Veselka J, et al. Hypertrofická kardiomyopatie a příbuzná témata. Galén, 2006. ISBN: 80-7262-443-1.

8. Zeman M, Sepši M, Vojtíšek T, Šindler M. Suddenly deceased young individuals autopsied at the Department of forensic medicine, Brno – analysis. Soud Lek 2012; 57(3): 44-47.

Štítky
Anatomical pathology Forensic medical examiner Toxicology
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