ORCID Profile
0000-0001-9222-325X
Current Organisations
Universitat de les Illes Balears
,
Hospital Son Llatzer
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Publisher: Massachusetts Medical Society
Date: 20-09-2018
Publisher: MDPI AG
Date: 27-04-2022
Abstract: Introduction: Arrhythmogenic cardiomyopathy (ACM) is an inherited disease characterized by progressive fibroadipose replacement of cardiomyocytes. Its diagnosis is based on imaging, electrocardiographic, histological and genetic/familial criteria. The development of the disease is based mainly on desmosomal genes. Knowledge of the phenotypic expression of each of these genes will help in both diagnosis and prognosis. The objective of this study is to describe the genotype–phenotype association of an unknown PKP2 gene variant in a family diagnosed with ACM. Methods: Clinical and genetic study of a big family carrying the p.Tyr168* variant in the PKP2 gene, in order to demonstrate pathogenicity of this variant, causing ACM. Results: Twenty-two patients (proband and relatives) were evaluated. This variant presented with high arrhythmic load at an early age, but without evidence of structural heart disease after 20 years of follow-up, with low risk in predictive scores. We demonstrate evidence of its pathogenicity. Conclusions: The p.Tyr168* variant in the PKP2 gene causes ACM with a high arrhythmic load and with an absence of structural heart disease. This fact emphasizes the value of knowing the phenotypic expression of each variant.
Publisher: Elsevier BV
Date: 11-2018
Publisher: MDPI AG
Date: 09-02-2022
Abstract: Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband’s risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the novel p.Arg652Lys variant in the MYH7 gene. Eight families and 59 patients are described in the follow-up for a median of 63 months, among whom 39 (66%) carry the variant. Twenty-five (64%) of carriers developed HCM. A median maximum LV wall thickness of 16.5 mm was described. The LV hypertrophy was asymmetric septal in 75% of cases, with LV outflow tract obstruction in 28%. The incidence of a composite of serious adverse cardiovascular events (sudden death, aborted sudden death, appropriate implantable cardiac defibrillator discharge, an embolic event, or admission for heart failure) was observed in five (20%) patients. Given the finding of the p.Arg652Lys variant in patients with HCM, but not in controls, with evident segregation in patients with HCM from eight families and the location in an active site of the protein, we can define this variant as likely pathogenic and associated with the development of HCM.
Publisher: Ovid Technologies (Wolters Kluwer Health)
Date: 05-02-2019
Abstract: Using data from the GARFIELD ‐ AF (Global Anticoagulant Registry in the FIELD –Atrial Fibrillation), we evaluated the impact of chronic kidney disease ( CKD ) stage on clinical outcomes in patients with newly diagnosed atrial fibrillation ( AF ). GARFIELD ‐ AF is a prospective registry of patients from 35 countries, including patients from Asia (China, India, Japan, Singapore, South Korea, and Thailand). Consecutive patients enrolled (2013–2016) were classified with no, mild, or moderate‐to‐severe CKD , based on the National Kidney Foundation's Kidney Disease Outcomes Quality Initiative guidelines. Data on CKD status and outcomes were available for 33 024 of 34 854 patients (including 9491 patients from Asia) 10.9% (n=3613) had moderate‐to‐severe CKD , 16.9% (n=5595) mild CKD , and 72.1% (n=23 816) no CKD . The use of oral anticoagulants was influenced by stroke risk (ie, post hoc assessment of CHA 2 DS 2 ‐ VAS c score), but not by CKD stage. The quality of anticoagulant control with vitamin K antagonists did not differ with CKD stage. After adjusting for baseline characteristics and antithrombotic use, both mild and moderate‐to‐severe CKD were independent risk factors for all‐cause mortality. Moderate‐to‐severe CKD was independently associated with a higher risk of stroke/systemic embolism, major bleeding, new‐onset acute coronary syndrome, and new or worsening heart failure. The impact of moderate‐to‐severe CKD on mortality was significantly greater in patients from Asia than the rest of the world ( P =0.001). In GARFIELD ‐ AF , moderate‐to‐severe CKD was independently associated with stroke/systemic embolism, major bleeding, and mortality. The effect of moderate‐to‐severe CKD on mortality was even greater in patients from Asia than the rest of the world. URL : www.clinicaltrials.gov . Unique identifier: NCT 01090362.
No related grants have been discovered for TOMAS RIPOLL-VERA.