Channelopathy
Definition
Ion-channel gene mutation causing potentially fatal arrhythmia without structural cardiac abnormality. The three principal forensic channelopathies are long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). Diagnosis requires post-mortem genetic testing; the heart is grossly and histologically normal.
- Cause
- Ion-channel gene mutation
- Heart structure
- Grossly and histologically normal
- Principal types
- LQTS, Brugada syndrome, CPVT
- Diagnosis method
- Post-mortem genetic testing
Common questions
Why is channelopathy hard to diagnose at autopsy?+
Because the heart shows no structural abnormality under gross or microscopic examination, a standard autopsy alone cannot explain the death, so the diagnosis depends on targeted post-mortem genetic testing to identify the causative ion-channel mutation.
Why does this matter for surviving family members?+
Many of these conditions are inherited, so confirming a channelopathy in a sudden death case can prompt cardiac genetic screening of relatives to identify and manage their own arrhythmia risk before it becomes fatal.
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...
- 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...
- Post-Mortem Genetic Testing (Cardiac)
- 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...
- Serum Tryptase
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- 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...