Publications by authors named "Esther Gonzalez Lopez"
Development of specific therapies addressing the underlying diseases' mechanisms constitutes the basis of precision medicine. Transthyretin cardiac amyloidosis (ATTR-CM) is an exemplar of precise therapeutic approach in the field of heart failure and cardiomyopathies. A better understanding of the underlying pathophysiology, more precise data of its epidemiology, and advances in imaging techniques that allow non-invasive diagnosis have fostered the development of new and very effective specific therapies for ATTR-CM.
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- The study investigates the incidence, mechanisms, and predictors of sudden death (SD) in patients with cardiac amyloidosis, a serious heart condition.
- It analyzed data from 784 patients with either ATTR or AL cardiac amyloidosis, finding that SD is more common in AL patients compared to those with ATTR.
- Key risk factors for SD include previous pacemaker implantation for ATTR patients and the use of beta-blockers and advanced heart failure symptoms (NYHA III-IV) for AL patients.
Article Synopsis
- Systemic immune-mediated diseases (SIDs) may contribute to dilated cardiomyopathy (DCM), and this study aimed to explore the genetic predispositions present in DCM patients with SIDs.
- The research involved 183 DCM-SID patients, identifying a significantly higher prevalence of pathogenic genetic variants in these individuals compared to healthy controls and DCM patients without SIDs.
- Findings suggest that about 17-20% of DCM patients with SIDs have pathogenic variants, particularly truncating variants like TTN, indicating the importance of genetic testing for understanding the causes of immune-related DCM.
Article Synopsis
- Transthyretin cardiac amyloidosis (ATTR-CA) is a treatable form of heart failure, often associated with atrial fibrillation (AF), and the study explores if recent-onset AF can indicate ATTR-CA in patients over 65.
- In a study of 121 patients recently diagnosed with nonvalvular AF, 10 were found to have cardiac amyloidosis, with notable differences in age, sex, and heart metrics observed between those with and without the condition.
- The findings suggest that routine screening for ATTR-CA using echocardiography and other tests may benefit older patients with AF and specific heart features, although more extensive research is needed to confirm these results in varied clinical situations.
Biallelic variants in PPA2 gene cause a rare but lethal mitochondrial disorder. We describe the first four cases reported in Spain of PPA2 disease in two unrelated families. We have conducted a revision of the clinical history, necropsies, and postmortem genetic testing from probands, and clinical evaluation, genetic testing and blood transcript analysis in family members.
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- - Cardiac amyloidosis is becoming recognized as a treatable type of heart failure, with effective therapies now available for its two common forms: immunoglobulin light chain amyloidosis and transthyretin (ATTR) amyloidosis.
- - Accurate treatment initiation depends on the proper identification of cardiac amyloidosis and the specific amyloid type, with noninvasive methods available for ATTR but histological confirmation still needed for many cases.
- - The review outlines the need for histological typing in certain patients and discusses various techniques for amyloid deposit typing, including mass spectrometry, immunohistochemistry, and immunoelectron microscopy, along with their pros and cons in clinical usage.
Background: Conventional right ventricle (RV) pacemaker stimulation has been associated with worse clinical outcomes in patients with cardiac amyloidosis (CA). Left bundle branch area pacing (LABPP) has been suggested as a promising alternative. We sought to assess the safety, feasibility, and outcomes of LABPP in patients with CA.
View Article and Find Full Text PDFObjective: We sought to investigate prevalence, incidence and prognostic implications of permanent pacemaker (PPM) implantation in patients with cardiac amyloidosis (CA), thereby identifying the predictors of time to PPM implantation.
Methods: Seven hundred eighty-seven patients with CA (602 men, median age 74 years, 571 transthyretin amyloidosis (ATTR), 216 light-chain amyloidosis (AL)) evaluated at two European referral centres were retrospectively included. Clinical, laboratory and instrumental data were analysed.
Article Synopsis
- Black patients experience higher stroke rates than White patients despite having lower rates of atrial fibrillation (AF), with White patients diagnosed with AF at significantly higher rates.
- A study involving 558 ATTR-CA patients revealed that Black patients with AF faced a much greater risk (hazard ratio of 5.78) for thromboembolic events compared to their White counterparts.
- The research indicates that treatment discrepancies, such as lower rates of anticoagulation and issues with maintaining therapeutic ranges, may contribute to these increased risks among Black patients.*
Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a treatable cause of heart failure (HF). Advances in diagnosis and therapy have increased the number of patients diagnosed at early stages, but prognostic data on patients without HF symptoms are lacking. Moreover, it is unknown whether asymptomatic patients benefit from early initiation of transthyretin (TTR) stabilizers.
View Article and Find Full Text PDFBackground: The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in Spain.
View Article and Find Full Text PDFAims: Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a cause of heart failure in the elderly. Although wild-type transthyretin amyloidosis is the most frequent form of ATTR-CM found in the elderly, hereditary transthyretin amyloidosis (ATTRv) can also occur. We sought to determine the prevalence of ATTRv among elderly ATTR-CM patients, identify predictors of ATTRv and evaluate the clinical consequences of positive genetic testing in this population.
View Article and Find Full Text PDFAims: Although systemic embolism is a potential complication in transthyretin amyloid cardiomyopathy (ATTR-CM), data about its incidence and prevalence are scarce. We studied the incidence, prevalence and factors associated with embolic events in ATTR-CM. Additionally, we evaluated embolic events according to the type of oral anticoagulation (OAC) and the performance of the CHA DS -VASc score in this setting.
View Article and Find Full Text PDFIntroduction And Objectives: Endomyocardial biopsy (EMB) is the only technique able to establish an etiological diagnosis of myocarditis or inflammatory cardiomyopathy (ICM). The aim of this study was to analyze the clinical profile, outcomes, and prognostic factors of patients with suspected myocarditis/ICM undergoing EMB.
Methods: We retrospectively analyzed the clinical characteristics, histological findings, and follow-up data of all patients with suspected myocarditis or ICM who underwent EMB between 1997 and 2019 in a Spanish tertiary hospital.
Background: Wild-type transthyretin amyloidosis is a systemic disease with predominantly cardiac symptoms. The aim of this study was to assess the short-term prognosis of these patients through contractile reserve measured by stress echocardiography, given the usefulness that this parameter has demonstrated in other populations. We considered major events as death from any cause and hospitalization for heart failure.
View Article and Find Full Text PDFAims: In patients with transthyretin amyloid cardiomyopathy (ATTR-CM), the effect of tafamidis on myocardial function using serial speckle tracking echocardiography has not been reported. The purpose of this study was to describe the natural history of myocardial function in untreated ATTR-CM and determine the effect of tafamidis on myocardial functional parameters over 12 months of treatment.
Methods And Results: A total of 45 subjects with ATTR-CM were retrospectively studied: 23 treated with tafamidis and 22 untreated.
Background: The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled.
Objectives: The study sought to assess the prognostic impact of disease-causing genetic variants in DCM.
Methods: Baseline and longitudinal clinical data from 1,005 genotyped DCM probands were retrospectively collected at 20 centers.