Molecular pathology study of sudden death with cardiomyopathy in forensic autopsy cases (1/4) - investigating the correlation with viral infection and immune response

Children with cardiomyopathy are at risk of sudden cardiac death, but the mechanism is not clear. There are no specific markers in histopathological diagnosis of cardiomyopathy and to establish the differential diagnosis in molecular pathology is needed. The purpose of this project is to establish the sudden cardiac death in cardiomyopathy formalin-fixed tissue and paraffin block bank and study the protein and gene expression level of cell-to-cell adhesion proteins in arrhythmogenic right ventricular cardiomyopathy (ARVC) cases. In the first year of the project, we analyzed 99 ARVC cases and cooperated with Taipei Veterans General Hospital to study genotype. 54.5% ARVC cases with gene mutations, and Desmoplakin (DSP) was mainly mutatig. The coincidence rate of gene and immunohistochemical protein level mutations was 35.7%. We also used image analysis software for quantitative digital pathology and the trend of Plakoglobin (JUP) was matched. We established the equipment and technique for western blotting and summarized the histological features of alcoholic and methamphetamine cardiomyopathy. We increased 150 data in our cardiomyopathy tissue bank. To utilize the diagnostic methods and techniques of molecular pathology is one of the most important tendencies of forensic pathology. It assists forensic pathologists a lot to investigate death and to make diagnosis of cause of death, increasing sensitivity and specificity. Forensic cardiomyopathy cases study can realize pathological mechanism and develop the diagnostic techniques.  

Keywords: cardiomyopathy, sudden death, immunohistochemistry stain, arrhythmogenic right ventricular cardiomyopathy, forensic molecular pathology

Molecular pathology study of sudden death with cardiomyopathy in forensic autopsy cases (2/4)- investigating the correlation with cell conjunction proteins

Young adult with cardiomyopathy are at risk of sudden cardiac death, but the mechanism is not clear. There are no specific markers in histopathological diagnosis of cardiomyopathy and to establish the differential diagnosis in molecular pathology is needed. The purpose of this project is to establish the sudden cardiac death in cardiomyopathy formalin-fixed tissue and paraffin block bank and study the protein and gene expression level of cell-to-cell adhesion proteins in arrhythmogenic right ventricular cardiomyopathy (ARVC) cases. In the second year of this project, we analyzed 9 cell markers (JUP、DSP、PKP2、DSG2、DSC2、CTNNA3、DES、RYR2 and TTN) in 66 cases by immunohistochemistry staining and establish immunofluorescence method. PKP2 and CTNNA3 significantly increased and TTN significantly decreased in ARVC cases. To study acute alcohol intoxication cases, we observed that DES was decreased by immunohistochemistry staining. Establishing PTAH staining to facilitate the pathological diagnosis of ventricular fibrillation and applied in forensic autopsy cases. We collected 293 data in our cardiomyopathy tissue bank. To utilize the diagnostic methods and techniques of molecular pathology is one of the most important tendencies of forensic pathology. It assists forensic pathologists a lot to investigate death and to make diagnosis of cause of death, increasing sensitivity and specificity. Forensic cardiomyopathy cases study can clarify pathological mechanism and develop the diagnostic techniques.

Keywords: cardiomyopathy, sudden death, immunohistochemistry staining, arrhythmogenic right ventricular cardiomyopathy, forensic molecular pathology