A5033476720- Cardiac electrophysiology and arrhythmias
- Cardiovascular Effects of Exercise
- Cardiomyopathy and Myosin Studies
- Cardiac Arrhythmias and Treatments
- Ion channel regulation and function
- RNA and protein synthesis mechanisms
- Viral Infections and Immunology Research
- Genomics and Rare Diseases
- Cardiac pacing and defibrillation studies
- RNA Research and Splicing
- ECG Monitoring and Analysis
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Nuclear Structure and Function
- Neuroscience of respiration and sleep
- Genetic Associations and Epidemiology
- Cardiac Valve Diseases and Treatments
- Muscle Physiology and Disorders
- Congenital heart defects research
- Congenital Heart Disease Studies
- Cardiovascular Function and Risk Factors
- Analog and Mixed-Signal Circuit Design
- Cardiac Structural Anomalies and Repair
Institut d'Investigació Biomèdica de Girona
2016-2024
Centro de Investigación Biomédica en Red
2020-2024
Centro de Investigación en Red en Enfermedades Cardiovasculares
2020-2024
Hospital Universitari de Girona Doctor Josep Trueta
2016-2024
University of Girona
2016-2024
Institut Català de la Salut
2024
Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies enable unraveling etiology and identification relatives at risk. The aim our study was to define natural deaths, younger than 50 years age, investigate whether defects associated with diseases could provide a potential for cases.Our cohort included total 789 consecutive cases (77.19% males) <50 old (average 38.6±12.2 old) who died suddenly from non-violent causes. A...
BackgroundAccurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations variant classification require the reanalysis and reclassification. We aim to perform an exhaustive re-analysis associated with inherited arrhythmogenic syndromes, which were classified ten years ago, determine whether their aligns current standards research findings.MethodsIn 2010, identified through analysis following available at that time. Nowadays, same have...
Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short intervals detected electrocardiogram. Several variants are causally linked to disease, but there has yet be comprehensive analysis among patients syndrome. To fill this gap, we performed an exhaustive study currently catalogued as deleterious in syndrome according American College Medical Genetics and Genomics Association for Molecular Pathology. Analysis...
Abstract Sudden death cases in the young population remain without a conclusive cause of decease almost 40% cases. In these situations, cardiac arrhythmia genetic origin is suspected as most plausible death. Molecular autopsy may reveal defect up to 20% families. Most than 80% rare variants classified with an ambiguous role, impeding useful clinical translation. Our aim was update originally unknown significance clarify their role. cohort included fifty-one post-mortem samples who died...
Brugada syndrome (BrS) is an inherited arrhythmogenic disease associated with sudden cardiac death. The main gene SCN5A. Additional variants in 42 other genes have been reported as deleterious, although these not yet received comprehensive pathogenic analysis. Our aim was to clarify the role of all currently minor BrS. We performed a analysis according American College Medical Genetics and Genomics guidelines published clinical basic data on (other than SCN5A) related results identified 133...
Genetic interpretation of rare variants associated with arrhythmogenic cardiomyopathy (ACM) is essential due to their diagnostic implications. New data may relabel previous variant classifications, but how often reanalysis necessary remains undefined. Five years ago, 39 ACM-related were identified in patients features cardiomyopathy. These classified following the American College Medical Genetics and Genomics’ guidelines. In present study, we reevaluated these including novel available...
A proper interpretation of the pathogenicity rare variants is crucial before clinical translation. Ongoing addition new data may modify previous variant classifications; however, how often a reanalysis necessary remains undefined. We aimed to extensively reanalyze associated with inherited channelopathies originally classified 5 years ago and its impact. In 2016, identified through genetic analysis were following American College Medical Genetics Genomics' recommendations. Five later, we...
Inherited cardiovascular diseases are rare that difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, which identification pathogenic genetic variant is often diagnostic criterion. Therefore, classification and routine reinterpretation as data become available represent one main challenges associated with analyses. Using variants identified an inherited unit during 10-year period, objectives this study were: 1) evaluate impact...
Abstract Sudden infant death syndrome (SIDS) is still the leading cause of for newborns in developed countries. The pathophysiological mechanisms have not been fully clarified, but some SIDS cases variants genes associated with inherited cardiac conditions are found. In this study, an analysis SCD-related was performed to determine prevalence rare pathogenic (P) or likely (LP) that could provide unambiguous explanation fatal event. A cohort 76 underwent Next-Generation Sequencing (NGS) a...
Background: Laminopathies are caused by rare alterations in LMNA , leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different each patient. We investigated variability laminopathy phenotypes performing targeted genetic analysis of patients diagnosed with -related identify variants alternative genes, thereby explaining phenotypic differences. Methods: analyzed 105 genes associated diseases sequencing 26 pediatric countries, any...
The titin gene (TTN) is associated with several diseases, including inherited arrhythmias. Most of these diagnoses are attributed to rare TTN variants encoding truncated forms, but missense represent a diagnostic challenge for clinical genetics. proper interpretation genetic data critical translation into the setting. Notably, many were classified before 2015, when American College Medical Genetics and Genomics (ACMG) published recommendations accurately classify variants. Our aim was...
Dilated cardiomyopathy is a heterogeneous entity that leads to heart failure and malignant arrhythmias. Nearly 50% of cases are inherited; therefore, genetic analysis crucial unravel the cause for early identification carriers at risk. A large number variants remain classified as ambiguous, impeding an actionable clinical translation. Our goal was perform comprehensive update previously with ambiguous role, applying new algorithm already available tools. In cohort 65 diagnosed dilated...
Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow comprehensive analysis to unravel the cause disease. However, most identified variants remain unknown clinical significance due incomplete penetrance and variable expressivity. Therefore, interpretation translation into practice current challenge. We performed...