Search Results - "Espinosa, María Angeles"
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1
Epicardial ablation for ventricular tachycardia in Freidreich’s ataxia cardiomyopathy
Published in Europace (London, England) (01-07-2019)Get full text
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2
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
Published in PloS one (03-08-2017)“…Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited heart disease. Next-generation sequencing (NGS) is the preferred genetic test, but the…”
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3
Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice
Published in European journal of human genetics : EJHG (01-07-2018)“…Several studies have identified copy number variants (CNVs) as responsible for cardiac diseases associated with sudden cardiac death (SCD), but very few…”
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4
Sudden cardiac death triggered by minimal alcohol consumption in the context of novel PPA2 mutations in 2 unrelated families
Published in Gene (20-07-2024)“…•The current study presents four cases of PPA2 disease, to our knowledge, the first diagnosed in Spain.•Patients should be warned regarding alcohol consumption…”
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5
Negative screening of Fabry disease in patients with conduction disorders requiring a pacemaker
Published in Orphanet journal of rare diseases (08-07-2019)“…Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are…”
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6
The Functional Significance of Paradoxical Low-Gradient Aortic Valve Stenosis
Published in JACC. Cardiovascular imaging (2017)“…Abstract Objectives The goal of this study was to determine the functional impact of paradoxical low-gradient aortic stenosis (PLGAS) and clarify whether the…”
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7
Heart valve disease in Hurler-Scheie syndrome
Published in Cardiology journal (30-09-2022)Get full text
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8
Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy
Published in Journal of the American College of Cardiology (26-10-2021)“…The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled. The study sought to assess the prognostic impact of…”
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9
Sudden Death in a Young Patient with Atrial Fibrillation
Published in Cardiogenetics (30-08-2017)“…Sudden cardiac death (SCD) in young patients without structural heart disease is frequently due to inherited channelopathies such as long QT syndrome (LQTS),…”
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10
Sex Differences in Transthyretin Cardiac Amyloidosis: Unraveling the Complexities in Epidemiology, Pathophysiology, Diagnosis, and Treatment
Published in Current heart failure reports (01-08-2024)“…Transthyretin cardiac amyloidosis (ATTR-CA) is characterised by the deposition of transthyretin amyloid fibrils in the heart. ATTR-CA affects both men and…”
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11
Effect of Resistance Exercises on the Indicators of Muscle Reserves and Handgrip Strength in Adult Patients on Hemodialysis
Published in Journal of renal nutrition (2016)“…Objective Although resistance exercise has been associated with improvement in the muscle reserves, muscle strength and quality of life in end-stage renal…”
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12
Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non‐ischaemic dilated cardiomyopathy
Published in European journal of heart failure (01-07-2022)“…Aims Genotype and left ventricular scar on cardiac magnetic resonance (CMR) are increasingly recognized as risk markers for adverse outcomes in non‐ischaemic…”
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13
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
Published in Journal of the American College of Cardiology (30-04-2024)“…Disease penetrance in genotype-positive (G+) relatives of families with dilated cardiomyopathy (DCM) and the characteristics associated with DCM onset in these…”
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14
Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain
Published in Amyloid (03-04-2023)“…The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to…”
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15
The Functional Significance of Paradoxical Low-Gradient Aortic Valve Stenosis: Hemodynamic Findings During Cardiopulmonary Exercise Testing
Published in JACC. Cardiovascular imaging (01-01-2017)“…The goal of this study was to determine the functional impact of paradoxical low-gradient aortic stenosis (PLGAS) and clarify whether the relevance of the…”
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16
Permanent atrioventricular block after flecainide testing
Published in Revista española de cardiología (English ed.) (01-02-2020)Get full text
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17
Association between BMI z-score and body composition indexes with blood pressure and grip strength in school-age children: a cross-sectional study
Published in Scientific reports (05-03-2024)“…Childhood obesity is linked to diverse health outcomes, including elevated blood pressure (EBP). Emerging evidence showed that excess fat mass (FM) may have a…”
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18
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males
Published in Open heart (01-09-2021)“…ObjectiveOne of the challenges in hypertrophic cardiomyopathy (HCM) is to determine the pathogenicity of genetic variants and to establish genotype/phenotype…”
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19
Assessment of the reliability and consistency of the "malnutrition inflammation score" (MIS) in Mexican adults with chronic kidney disease for diagnosis of protein-energy wasting syndrome (PEW)
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (04-10-2014)“…The protein-energy wasting syndrome (PEW) is a condition of malnutrition, inflammation, anorexia and wasting of body reserves resulting from inflammatory and…”
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Effect of probiotics on human blood urea levels in patients with chronic renal failure
Published in Nutrición hospitalaria : organo oficial de la Sociedad Española de Nutrición Parenteral y Enteral (01-03-2014)“…Patients with chronic kidney disease (CKD) show an increase in bowel aerobic bacteria that produce uremic toxins and decreased anaerobic bacteria as…”
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