Cardiopatías Familiares e xenética cardiovascular
Instituto de Salud Carlos III
Madrid, EspañaPublicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (61)
2024
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Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy
Circulation: Heart Failure
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Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies
Genes, Vol. 15, Núm. 6
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Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. Response
Revista Espanola de Cardiologia
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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
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Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy
Revista Espanola de Cardiologia, Vol. 77, Núm. 4, pp. 347-349
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Efficacy and Safety of Aficamten in Symptomatic Nonobstructive Hypertrophic Cardiomyopathy: Results From the REDWOOD-HCM Trial, Cohort 4
Journal of Cardiac Failure
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Impact of Aficamten on Disease and Symptom Burden in Obstructive Hypertrophic Cardiomyopathy: Results From SEQUOIA-HCM
Journal of the American College of Cardiology, Vol. 84, Núm. 19, pp. 1821-1831
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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
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Non-invasive imaging techniques in transcatheter aortic valve implantation
Cirugia Cardiovascular
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Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651
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Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy
JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190
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Pregnancy in women with dilated cardiomyopathy genetic variants
Revista Espanola de Cardiologia
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Prevalence and characteristics of transthyretin amyloid cardiomyopathy in hypertrophic cardiomyopathy
ESC Heart Failure
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Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation
JACC: Clinical Electrophysiology, Vol. 10, Núm. 10, pp. 2250-2260
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Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404
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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
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A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve
Circulation, Vol. 147, Núm. 1, pp. 47-65
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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
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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
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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