Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (19)

2024

  1. Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. Response

    Revista Espanola de Cardiologia

  2. Diagnosis and treatment of myocarditis and inflammatory cardiomyopathy. Consensus document of the SEC-Working Group on Myocarditis

    Revista Espanola de Cardiologia, Vol. 77, Núm. 8, pp. 667-679

  3. Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy

    Revista Espanola de Cardiologia, Vol. 77, Núm. 4, pp. 347-349

  4. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  5. Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 10, pp. 2250-2260

2023

  1. Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

    European Heart Journal, Vol. 44, Núm. 48, pp. 5064-5073

  2. Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report

    European Heart Journal - Case Reports, Vol. 7, Núm. 11

  3. Impact of SARS-CoV-2 infection in patients with cardiac amyloidosis: Results of a multicentre registry

    Medicina Clinica, Vol. 161, Núm. 11, pp. 476-482

  4. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation

    European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85

  5. Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants

    Circulation: Genomic and Precision Medicine, Vol. 16, Núm. 5, pp. 434-441

  6. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

    Circulation Research, Vol. 133, Núm. 2, pp. 108-119

2022

  1. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  2. Hypokinetic hypertrophic cardiomyopathy: clinical phenotype, genetics, and prognosis

    ESC Heart Failure, Vol. 9, Núm. 4, pp. 2301-2312

  3. Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator

    European heart journal, Vol. 43, Núm. 32, pp. 3053-3067

2021

  1. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699

  2. Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: measurement of lyso-Gb3 in plasma defines between Fabry disease and drug-induced phospholipidosis

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1867, Núm. 1

  3. Lamin cardiomyopathies risk stratification

    Europace

2019

  1. Letter by Barriales-Villa et al Regarding Article, "development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies"

    Circulation

2018

  1. Letter by Ruiz-Guerrero et al Regarding Article, "Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation"

    Circulation. Genomic and precision medicine