A5103168666- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Congenital heart defects research
- Cardiac electrophysiology and arrhythmias
- Congenital Heart Disease Studies
- Viral Infections and Immunology Research
- Sports injuries and prevention
- Glycogen Storage Diseases and Myoclonus
- Muscle Physiology and Disorders
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- Cardiovascular Function and Risk Factors
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Healthcare Education and Workforce Issues
- Patient-Provider Communication in Healthcare
- Health Literacy and Information Accessibility
- Trypanosoma species research and implications
- Forensic Toxicology and Drug Analysis
- Poisoning and overdose treatments
Instituto de Investigación Biosanitaria de Granada
2022-2025
Universidade da Coruña
2021-2024
Instituto de Investigación Biomédica de A Coruña
2021-2024
Centro de Investigación Biomédica en Red
2024
Outcomes Research Consortium
2024
Servicio Gallego de Salud
2021
Complexo Hospitalario Universitario A Coruña
2021
Hospital Universitario Virgen del Rocío
2017-2018
Abstract Aims The aim of this study was to determine the frequency heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing independent cohorts family co-segregation studies. Methods results In a discovery cohort 770 index HCM, 12 (1.56%) were for ALPK3tv [odds ratio(OR) 16.11, 95% confidence interval (CI) 7.94–30.02, P = 8.05e−11] compared Genome Aggregation Database (gnomAD) population....
Hypertrophic cardiomyopathy (HCM), defined clinically by the presence of unexplained left ventricular hypertrophy (LVH) with wall-thickness ≥ 1.5 cm is a phenotype in search diagnosis which most often genetically determined, cardiac exclusive or systemic disorder. Familial evaluation and genetic testing are required for definitive diagnosis. The role findings predicting disease development, outcomes, increasingly to guide management evolving access larger data sets. specific mutation sex...
BACKGROUND: Less than 40% of patients with dilated cardiomyopathy (DCM) have a pathogenic/likely pathogenic genetic variant identified. TBX20 has been linked to congenital heart defects; although an association left ventricular noncompaction (LVNC) and DCM proposed, it is still considered gene limited evidence for these phenotypes. This study sought investigate the between truncating ( TBX20tv ) DCM/LVNC. METHODS: was sequenced by next-generation sequencing in 7463 unrelated probands...
Graphical AbstractThe diagnostic approach in a patient carrying DSP P/LP variant. ARVC, arrhythmogenic right ventricular cardiomyopathy; CVD, cardiovascular disease; DCM, dilated HF, heart failure; LGE, late gadolinium enhancement; LV, left ventricle; LVEF, ejection fraction; LVED, end diastole; LVES, systole; NDLVC, non-dilated NSVT, non-sustained tachycardia; PVCs, premature contractions; RV, RVEF, RVED, VA, arrhythmia.Open new tabDownload slide
Formin homology 2 domain-containing 3 ( FHOD3 ) gene has emerged as one of the main non-sarcomeric genes associated with hypertrophic cardiomyopathy (HCM), but no cases biallelic variants disease have been described to date. From 2014 until 2021, was evaluated in our center by next-generation sequencing 22 806 consecutive unrelated probands. The p.Arg637Gln variant enriched HCM cohort (284 9668 probands; 2.94%) compared internal controls (64 11 480; 0.59%) and gnomAD (373 64 409; 0.58%), ORs...