Key result
Review summarizes recent updates in the diagnosis, risk stratification, and management of inherited arrhythmia syndromes.
Why the study?
Understanding of the genetic architecture, risk stratification, and targeted therapies for inherited arrhythmia syndromes has evolved, prompting an update on their pathophysiology, diagnosis, and management.
This review highlights recent updates in the pathophysiology, diagnosis, risk stratification, and management of inherited arrhythmia syndromes, emphasizing the need to avoid overtreatment in low-risk patients and the potential of emerging therapies and artificial intelligence.
Supports refined risk stratification to avoid overtreatment in screened low-risk IA families; leaves open integration of polygenic scores into prognostic models.
The inherited arrhythmia (IA) syndromes are a group of rare and complex conditions that may predispose individuals to ventricular arrhythmias and sudden cardiac death. Our understanding of the genetic architecture underlying these syndromes has evolved, with recent reappraisals of variant pathogenicity and quantification of polygenic influences. The IA population includes an increasing proportion of low-risk patients, often identified via familial screening; avoiding over-treatment in these patients is an important consideration. Conversely, high-risk patients have an expanding armamentarium of targeted therapeutic interventions available beyond the ICD, with many emerging novel therapies. Refined risk stratification in the intermediate risk group is critical, utilising novel risk factors, genotype and multiparametric risk scores. Artificial intelligence will almost certainly play a role in diagnosis and risk stratification moving forward. Durable phenotype correction with gene therapy (or precision ablation) is an ultimate goal. This review will focus on updates in pathophysiology, diagnosis, risk stratification and management of Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic right ventricular cardiomyopathy.
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Moore et al. (2025) conducted a review in Inherited arrhythmia syndromes (Brugada syndrome, long QT syndrome, CPVT, ARVC). This review summarizes recent updates in the pathophysiology, diagnosis, risk stratification, and management of inherited arrhythmia syndromes including Brugada syndrome, long QT syndrome, CPVT, and ARVC.
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