Tomás Ripoll‐Vera
YOU?
Author Swipe
View article: Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure Open
Background and aims Certain genetic forms of dilated cardiomyopathy (DCM) entail a higher arrhythmic risk. It is unknown whether DCM patients with high-risk arrhythmic genotypes also develop more advanced heart failure (AHF) complications.…
View article: Transforming Care for Transthyretin Amyloidosis: Findings and Recommendations from the CARABELA Initiative
Transforming Care for Transthyretin Amyloidosis: Findings and Recommendations from the CARABELA Initiative Open
Background: Transthyretin amyloidosis (ATTR) is a multisystem, progressive, and potentially fatal condition. It is significantly under-recognized, leading to delayed diagnosis and treatment and poor outcomes. The CARABELA-ATTR initiative a…
View article: Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency
Hereditary transthyretin amyloidosis caused by Val142Ile variant in Spain: phenotypic characteristics, geographic distribution and population frequency Open
Background During recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to p.Val142Ile have been described in patients without African ancestry in countries like Japan, Spain or Italy (1,2,3,4). All this evidence …
View article: Characterization and natural history of patients with <i>LMNA</i>‐related dilated cardiomyopathy in the phase 3 REALM‐DCM trial
Characterization and natural history of patients with <i>LMNA</i>‐related dilated cardiomyopathy in the phase 3 REALM‐DCM trial Open
Aims LMNA ‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA ‐related DCM but was terminated due to futility …
View article: Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation
Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation Open
Unrecognized rare genetic variants increase the risk of CCD in young adults with CCD of unknown etiology. Genetic testing should be performed in patients age ≤60 years with CCD of unknown etiology. The role of genetic variants in sarcomeri…
View article: Percentage and main features of patients referred to a cardiac rehabilitation program who would have an indication for a GLP1 receptor agonist based on the SELECT trial criteria
Percentage and main features of patients referred to a cardiac rehabilitation program who would have an indication for a GLP1 receptor agonist based on the SELECT trial criteria Open
Background Recently published, SELECT trial has shown that semaglutide, a glucagon-like peptide-1 (GLP1) receptor agonist, reduces the risk of adverse cardiovascular events in patients 45 years of age or older who had preexisting cardiovas…
View article: XIX International Symposium on Amyloidosis Abstracts
XIX International Symposium on Amyloidosis Abstracts Open
Background: Variant transthyretin amyloidosis (ATTRv) is a rare genetic disease that affects patients' quality of life by affecting various organs and tissues. Despite a wealth of research on medical and psychosocial interventions, the imp…
View article: Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson–Fabry Disease
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson–Fabry Disease Open
The p.Arg301Gln variant in the α -galactosidase A gene (GLA) has been poorly described in the literature. The few reports show controversial information, with both classical and nonclassical Anderson–Fabry Disease (AFD) presentation patter…
View article: Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives
Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives Open
Following a first negative screening, approximately 11% of G+ relatives developed DCM during a median follow-up of 3 years. Older age, an abnormal electrocardiogram, lower left ventricular ejection fraction, increased left ventricular end-…
View article: Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease
Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease Open
Introduction: The Arg301Gln variant in theGLAgene has been poorly described in the literature. The few reports demonstrate different patterns of presentation of both classical and non-classical Anderson–Fabry (FD) disease, which develops l…
View article: Occupational therapy in variant transthyretin amyloidosis in the Iberian Peninsula. A qualitative study
Occupational therapy in variant transthyretin amyloidosis in the Iberian Peninsula. A qualitative study Open
Occupational therapy is part of integrated care in health services. However, there is little research on how it is applied to rare diseases. The aim of this study was to investigate the occupational therapy situation and services offered t…
View article: Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study
Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study Open
Background Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of research on medical and ps…
View article: Isn't occupational therapy necessary in the Iberian Peninsula? A qualitative study.
Isn't occupational therapy necessary in the Iberian Peninsula? A qualitative study. Open
Occupational therapy is part of integrated care/support in health services. However, there has been little research on how it is applied to rare diseases. The aim of this study was to investigate the occupational therapy situation and serv…
View article: Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation
Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation Open
Aims Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to …
View article: Zuranolone, a positive allosteric modulator of the GABAA receptor and a neuroactive steroid: hypothesized mechanism of action in depression
Zuranolone, a positive allosteric modulator of the GABAA receptor and a neuroactive steroid: hypothesized mechanism of action in depression Open
International audience
View article: Arrhythmia detection using insertable cardiac monitors after a negative electrophysiology study in Brugada syndrome: observations from a multicenter Spanish registry
Arrhythmia detection using insertable cardiac monitors after a negative electrophysiology study in Brugada syndrome: observations from a multicenter Spanish registry Open
Background/Introduction Risk stratification in Brugada syndrome (BrS) remains controversial. In this respect, the role of electrophysiology study (EPS) has been subject of debate. It is common practice in some centers to implant an inserta…
View article: Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients
Establishing Occupational Therapy Needs: A Semi-Structured Interview with Hereditary Transthyretin Amyloidosis Patients Open
The purpose of this study was to explore the occupational performance and needs of patients with hereditary transthyretin amyloidosis (ATTRv). A semi-structured interview was conducted by an occupational therapist with 44 patients with Val…