Publicaciones en colaboración con investigadores/as de Centro Nacional de Investigaciones Cardiovasculares Carlos III (50)

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. 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. Double somatic mosaicism in Marfan syndrome

    American Journal of Medical Genetics, Part A

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

    Journal of Cardiac Failure

  5. 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

  6. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

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

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

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

  8. Pregnancy in women with dilated cardiomyopathy genetic variants

    Revista Espanola de Cardiologia

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

    ESC Heart Failure

  10. 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

  11. Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

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

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

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

  13. 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. 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

  4. Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction

    International Journal of Molecular Sciences, Vol. 24, Núm. 13

  5. 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

  6. Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 81, Núm. 1, pp. 34-45

  7. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207