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.
- Sample types
- Frozen fresh myocardium, paraffin-embedded tissue blocks
- Target genes
- Ion-channel and cardiomyopathy genes
- Guidelines
- RCPath (UK), NHFA (Australia)
- Indication
- Unexplained sudden cardiac death under age 40
Common questions
Why is the age-40 threshold used for recommending this testing?+
Inherited channelopathies and cardiomyopathies are the leading cause of otherwise unexplained sudden cardiac death in younger people, whereas acquired coronary artery disease dominates in older decedents, so testing resources are directed to the age group where a genetic cause is more likely to be found.
What is the point of testing tissue from someone who has already died?+
A positive result identifies a heritable condition that living relatives may also carry, enabling cascade screening of the family so at-risk relatives can be monitored or treated before they experience the same event.
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...