Publicaciones en colaboración con investigadores/as de Centro Nacional de Investigaciones Cardiovasculares Carlos III (79)

2024

  1. Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

    Circulation: Heart Failure

  2. Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy

    Journal of the American Heart Association, Vol. 13, Núm. 21, pp. e036208

  3. 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

  4. Double somatic mosaicism in Marfan syndrome

    American Journal of Medical Genetics, Part A, Vol. 194, Núm. 12

  5. Efficacy and Safety of Aficamten in Symptomatic Nonobstructive Hypertrophic Cardiomyopathy: Results From the REDWOOD-HCM Trial, Cohort 4

    Journal of Cardiac Failure

  6. Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

    Journal of Medical Genetics, Vol. 61, Núm. 5, pp. 423-427

  7. Novel systematic processing of cardiac magnetic resonance imaging identifies target regions associated with infarct-related ventricular tachycardia

    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Vol. 26, Núm. 10

  8. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

  9. Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190

  10. Pregnancy in women with dilated cardiomyopathy genetic variants

    Revista Espanola de Cardiologia

  11. Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy

    ESC Heart Failure

  12. Prevalence of transthyretin cardiac amyloidosis in patients with heart failure with preserved ejection fraction: the PRACTICA study

    Revista Espanola de Cardiologia

  13. REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic LMNARelated Dilated Cardiomyopathy

    Circulation: Heart Failure, Vol. 17, Núm. 7, pp. e011548

  14. Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

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

  15. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404

  16. Standard-of-Care Medication Withdrawal in Patients With Obstructive Hypertrophic Cardiomyopathy Receiving Aficamten in FOREST-HCM

    Journal of the American College of Cardiology, Vol. 84, Núm. 19, pp. 1839-1849

2023

  1. A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve

    Circulation, Vol. 147, Núm. 1, pp. 47-65

  2. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

  3. Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo

    JACC: Cardiovascular Imaging, Vol. 16, Núm. 12, pp. 1567-1580

  4. 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