Publications by authors named "G Sarquella-Brugada"
Inherited arrhythmogenic syndromes comprise a heterogenic group of genetic entities that lead to malignant arrhythmias and sudden cardiac death. Genetic testing has become crucial to understand the disease etiology and allow for the early identification of relatives at risk; however, it requires an accurate interpretation of the data to achieve a clinically actionable outcome. This is particularly challenging for the large number of rare variants obtained by current high-throughput techniques, which are mostly classified as of unknown significance.
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- * AAs were the first symptom of IAS in 52% of patients, and nearly a quarter had multiple AAs documented.
- * The study found a moderate incidence of severe outcomes, including a yearly primary endpoint rate of 1.4%, with younger patients experiencing higher risks and other complications affecting some patients as well.
Article Synopsis
- Genetic testing is crucial for diagnosing short QT syndrome, a rare inherited condition that leads to dangerous heart rhythms and is marked by short QT intervals on an ECG.
- Researchers reviewed and updated knowledge about 34 rare genetic variants linked to short QT syndrome, identifying only nine that definitively cause the condition.
- The variants were found in four main genes (KCNQ1, KCNH2, KCNJ2, SLC4A3), highlighting the importance of reanalyzing genetic data to improve patient care and early identification of at-risk individuals.
Background: Although genetic variants in are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and explore predictors of bad prognosis in pediatric -related DCM.
Methods And Results: We evaluated clinical records from 44 patients (24 men; median age at diagnosis, 0.
Introduction And Objectives: We report the results of the 2023 Spanish catheter ablation registry.
Methods: Procedural data were collected and incorporated into the REDCap platform by all participating centers through a specific form.
Results: There were 104 participating centers in 2023 compared with 103 in 2022.