SUDDEN UNEXPLAINED JUVENILE DEATH AND THE ROLE OF MEDICOLEGAL INVESTIGATION: UPDATE ON MOLECULAR AUTOPSY
In the past few years, contributions of molecular biology assays to the investigation of sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sudden arrhythmic death, opening the way to preventive action on victims’ relatives. We reviewed literature on the genetics...
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| Format: | Article |
| Language: | English |
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Associazione Italiana Giovani Medici
2012-04-01
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| Series: | Euromediterranean Biomedical Journal |
| Online Access: | http://www.embj.org/images/ISSUE_2012/averna_25.pdf |
| Summary: | In the past few years, contributions of molecular biology assays to the investigation of
sudden juvenile death have permitted to clarify some of the pathogenetic aspects of sudden
arrhythmic death, opening the way to preventive action on victims’ relatives.
We reviewed literature on the genetics of sudden juvenile death, and on molecular biology
assays performed on autoptic samples.
Biological investigation permits the detection of genetic mutations underlying the susceptibility
to sudden cardiac death of individuals with rare inherited forms of arrhythmia
(Long QT Syndrome, Brugada Syndrome, Lev’s disease etc.) through the analysis of critical
sequences codifying for ion channel subunits (HERG, KvLQT1, MinK, Mirp1, SCN5A,
KCNQ1, KCNH2, KCNE1, KCNE2).
The main objective of post-mortem investigation in sudden juvenile death is the detection
of treatable monogenic inherited disorders, in order to prevent further deaths among the
relatives of the deceased patient.
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| ISSN: | 2279-7165 2279-7165 |