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Cardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?

Pediatr Neurol

January 2025

Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Pediatrics Research Group, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain; Pediatric Neurology Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.

Background: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy associated with loss-of-function variants in the SCN1A gene. Although predominantly expressed in the central nervous system, SCN1A is also expressed in the heart, suggesting a potential link between neuronal and cardiac channelopathies. Additionally, DS carries a high risk of sudden unexpected death in epilepsy (SUDEP).

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Background: Placement of right precordial leads in higher intercostal spaces (EEP-ECG) improves the detection of Brugada Syndrome (BrS). Given the potential difficulty of lead placement and the transient nature of BrS ECG patterns, we developed a model to predict EEP-ECG from a standard 12‑lead ECG.

Objective: To create and validate a model that derives EEP-ECG leads from a standard 12‑lead ECG.

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Brugada syndrome (BrS) is an inherited arrhythmogenic disorder characterized by distinct electrocardiographic patterns and an increased risk of sudden cardiac death due to ventricular arrhythmias. Effective management of BrS is essential, particularly for high-risk patients with recurrent arrhythmias. While implantable cardioverter-defibrillator (ICD) is effective in terminating life-threatening arrhythmias, it does not prevent arrhythmia onset and can lead to complications such as inappropriate shocks.

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Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024.

Front Med (Lausanne)

January 2025

Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Department of Radiology, West China Second University Hospital, Sichuan University, Chengdu, China.

Hereditary heart disease (HHD) is a series of cardiac disorders associated with monogenic or polygenic abnormalities and is one of the leading causes of sudden death, particularly in young adults. The updated European Cardiology guideline for cardiomyopathies provides the first comprehensive summary of genotyping, imaging, and therapy recommendations for inherited cardiomyopathies, but still lacks a comprehensive discussion of research advances and future trends in genetic diagnosis and therapy of HHD. Our research aims to fill this gap.

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Which Brugada patient deserves continuous ECG monitoring through implantable loop recorder? An evidence update.

J Cardiovasc Med (Hagerstown)

February 2025

Division of Cardiology, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende (CS).

Brugada syndrome (BrS) is a genetic condition that increases the risk of life-threatening arrhythmias, which can result in sudden cardiac death (SCD). Implantable loop recorders (ILRs) have become a key tool in managing patients with unexplained syncope, and guidelines advise their use in individuals with recurrent, unexplained syncope or palpitations. However, the role of ILRs in inherited arrhythmic conditions like BrS remains a topic of debate.

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