User profiles for "author:Joel Salazar-Mendiguchía"

Joel Salazar-Mendiguchía

Health in Code. Cardiovascular Genetics
Verified email at healthincode.com
Cited by 1303

[HTML][HTML] Anthracycline-mediated cardiomyopathy: basic molecular knowledge for the cardiologist

J Salazar-Mendiguchía, J González-Costello… - … de cardiología de …, 2014 - scielo.org.mx
Anthracyclines are cytostatic antibiotics discovered almost half a century ago exerting their
action through inhibition of topoisomerase II. The two most representative drugs are …

Genetic etiology for alcohol-induced cardiac toxicity

JS Ware, A Amor-Salamanca, U Tayal, R Govind… - Journal of the American …, 2018 - jacc.org
Background: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left
ventricle due to chronic excess alcohol consumption. It is largely unknown which factors …

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

JP Ochoa, M Sabater-Molina, JM García-Pinilla… - Journal of the American …, 2018 - jacc.org
Background: The genetic cause of hypertrophic cardiomyopathy remains unexplained in a
substantial proportion of cases. Formin homology 2 domain containing 3 (FHOD3) may have …

[HTML][HTML] Idiopathic restrictive cardiomyopathy is primarily a genetic disease

M Gallego-Delgado, JF Delgado, V Brossa-Loidi… - Journal of the American …, 2016 - jacc.org
Restrictive cardiomyopathy (RCM) is characterized by restrictive ventricular physiology in
the presence of normal diastolic volume and normal ventricular wall thickness (1). RCM is …

Clinical profile of cardiac involvement in Danon disease: a multicenter European registry

D Lotan, J Salazar-Mendiguchía… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy,
and neuropsychiatric problems. We designed this registry to generate a comprehensive …

CRUSADE bleeding risk score validation for ST-segment-elevation myocardial infarction undergoing primary percutaneous coronary intervention

A Ariza-Solé, G Sánchez-Elvira, JC Sánchez-Salado… - Thrombosis research, 2013 - Elsevier
Introduction The CRUSADE bleeding risk score (CBRS) accurately predicts major bleeding
in non-ST segment elevation myocardial infarction NSTEMI patients. However, little …

Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

R Barriales-Villa, JP Ochoa… - Revista Española de …, 2021 - Elsevier
Introduction and objectives According to sudden cardiac death guidelines, an implantable
cardioverter-defibrillator (ICD) should be considered in patients with LMNA-related dilated …

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

J Salazar-Mendiguchía, JP Ochoa, J Palomino-Doza… - Heart, 2020 - heart.bmj.com
Objective Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-
causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for …

[HTML][HTML] Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry

R Sánchez-Martínez, A Iriarte, JM Mora-Luján… - Orphanet journal of rare …, 2020 - Springer
Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with
autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A …

Clinical findings and prognosis of Danon disease. An analysis of the Spanish Multicenter Danon Registry

Á López-Sainz, J Salazar-Mendiguchía… - Revista Española de …, 2019 - Elsevier
Introduction and objectives Danon disease (DD) is caused by mutations in the LAMP2 gene.
It is considered a multisystemic disease characterized by hypertrophic cardiomyopathy with …