Sudden death of 19 year old at Barmer Rajasthan
All such cases should end up with molecular autopsy
Dr KK Aggarwal
President HCFI and IPNP IMA
- When an adolescent dies unexpectedly, an assessment of the cardiac anatomy is essential via autopsy.
- Histologic examination can find cardiomyopathic conditions.
- Arrhythmia as a cause of death cannot be assessed on post-mortem examination.
- If a cardiac anatomic explanation for sudden death is not found (autopsy-negative sudden unexplained death), evaluation should include family screening and genetic testing; however, in the absence of an overt phenotype, genetic testing is typically negative.
- A detailed family history should be obtained. Further assessment of first-degree relatives (siblings and parents) is determined by the family history, autopsy results, and in selected cases, genetic testing
- Clinical studies that may be useful in family investigation include ECG, Echo, Holter, cardiac MRI, TMT and electrophysiology testing.
- A molecular autopsy includes post-mortem genetic testing for channelopathies and cardiomyopathies is useful in such cases
- Genetic testing may be targeted to identify mutations associated with long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (including mutations in the KCNQ1, KCNH2, SCN5A, and RYR2 genes)
Can such people be saved: Yes. By bystander CPR and bystander public access defibrillator.