Postmortem molecular analysis in victims of sudden unexplained death.
Among several conditions that can be responsible for sudden cardiac death (SCD), an important role is played by long QT syndrome (LQTS). LQTS is a congenital electric heart disease that can be asymptomatic or have very severe clinical manifestation, leading to cardiac arrest. In fact, the first manifestation of LQTS can be hyperkinetic ventricular arrhythmias. The presence of LQTS should be considered in all cases of SCD where autopsy is negative for anatomic and histopathological findings. In these cases, after an accurate anamnesis, a genetic screening should always be performed. The screening on LQTS genes is performed on DNA extracted from paraffin-embedded tissues. Making a proper diagnosis in such cases can help to find new affected subjects among the family members of SCD victims and treat them. In these cases, if the pathologist does not make a correct diagnosis, can he or she be sued for malpractice?
Di Paolo
Marco
M
Institute of Legal Medicine, University of Pisa, Pisa, Italy. marcodipaolo@med.unipi.it
Luchini
Duccio
D
Bloise
Raffaella
R
Priori
Silvia G
SG
D000293:Adolescent; D000328:Adult; D016757:Death, Sudden, Cardiac / Q000473:pathology*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D015221:Potassium Channels / Q000235:genetics; D012189:Retrospective Studies
D015221:Potassium Channels