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Post-Mortem Genetic Testing (Cardiac)

Definition

Gene-panel analysis of post-mortem tissue (frozen fresh myocardium or paraffin-embedded blocks) targeting ion-channel and cardiomyopathy genes. Recommended in the UK (RCPath inherited cardiac conditions protocol), Australia (NHFA sudden-death guidelines), and internationally for unexplained SCD in individuals under 40 to enable familial cascade screening.

Related terms

ARVC (Arrhythmogenic Right Ventricular Cardiomyopathy)
Cardiomyopathy in which right ventricular myocardium is progressively replaced by fibrofatty tissue, predisposing to right ventricular arrhythmia and sudden death. Leading cause...
Channelopathy
Ion-channel gene mutation causing potentially fatal arrhythmia without structural cardiac abnormality. The three principal forensic channelopathies are long QT syndrome (LQTS), Brugada...
Hypertrophic Cardiomyopathy (HCM)
Autosomal dominant structural cardiomyopathy characterised by asymmetric septal hypertrophy (septal:free-wall thickness ratio > 1.3) and microscopic myocyte disarray covering > 5 percent...
Serum Tryptase
Enzyme released from mast cells during degranulation. Post-mortem tryptase > 11.4 ng/mL in peripheral blood is the principal biochemical marker for anaphylaxis...
SIDS (Sudden Infant Death Syndrome)
A diagnosis of exclusion under the AAP definition: sudden unexpected death of an infant under one year, occurring apparently during sleep, unexplained...
Sudden Cardiac Death (SCD)
Natural unexpected death from a cardiac cause within one hour of symptom onset, without a prior condition that would appear immediately fatal....
Triple-Risk Model (SIDS)
The Filiano and Kinney 1994 model proposing that SIDS deaths occur at the intersection of a vulnerable infant (brainstem arousal-response immaturity), a...

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