When a patient presents with sudden cardiac death, several key clinical features may suggest an underlying inherited cardiac condition.
A strong indicator is a family history of sudden cardiac death, particularly in young individuals, or a known family history of inherited cardiac conditions NICE CG109. Transient loss of consciousness, or 'blackouts' (syncope), can also be a significant clinical feature, as it may indicate an underlying cardiac arrhythmia that could lead to sudden cardiac death NICE CG109.
Inherited cardiac conditions, such as channelopathies and cardiomyopathies, are often implicated Adler & Viskin 2016Schulze-Bahr 2024Isbister et al. 2024. In cases of concealed cardiomyopathy, the condition may not present with overt symptoms until a sudden cardiac arrest or death occurs Isbister et al. 2024. Genetic cardiac diseases related to potassium channelopathies, for instance, can manifest with specific clinical features that predispose to arrhythmias Adler & Viskin 2016. The human genetics of cardiac arrhythmias are complex, and their presence can be a direct cause of sudden cardiac death Schulze-Bahr 2024.
Key References
- CG71 - Familial hypercholesterolaemia: identification and management
- CG109 - Transient loss of consciousness ('blackouts') in over 16s
- (Adler and Viskin, 2016): Clinical Features of Genetic Cardiac Diseases Related to Potassium Channelopathies.
- (Schulze-Bahr and Dittmann, 2024): Human Genetics of Cardiac Arrhythmias.
- (Isbister et al., 2024): Concealed cardiomyopathy as an emerging cause of sudden cardiac arrest and sudden cardiac death.