Inherited arrhythmia (IA) syndromes are a group of disorders characterized by an increased risk of sudden cardiac death (SCD) and abnormal cardiac electrical function, typically in the absence of structural heart disease. These conditions are rooted in genetic variants that disrupt the function of proteins essential for cardiac electrical signaling. Accurate Cardiac Channelopathy Diagnosis is paramount for effective management and risk mitigation.
The diagnosis of IA syndromes often presents through various clinical scenarios. These include presentation after a resuscitated cardiac arrest or arrhythmic syncope, the discovery of unexplained ECG abnormalities in the absence of structural or ischemic heart disease, during family screening, or following a sudden unexplained death. The 12-lead electrocardiogram (ECG) is the cornerstone of cardiac channelopathy diagnosis. However, challenges arise due to the overlap of ECG findings between affected individuals and the general population. Consequently, extended ECG monitoring and provocation tests, such as exercise or pharmacological challenges, are frequently necessary to unveil latent electrical abnormalities and solidify the cardiac channelopathy diagnosis.
Ultimately, precise and timely cardiac channelopathy diagnosis is essential for appropriate risk stratification and the implementation of targeted treatment strategies. These interventions aim to mitigate the risk of SCD and improve outcomes for individuals affected by these inherited cardiac conditions.
