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2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.

ABSTRACT: Fabry disease (FD) is an X-linked, rare inherited lysosomal storage disease caused by α-galactosidase A gene variants resulting in deficient or undetectable α-galactosidase A enzyme activity. Progressive accumulation of pathogenic globotriaosylceramide and its deacylated form globotriaosylsphingosine in multiple cell types and organs is proposed as main pathophysiology of FD, with elicited pro-inflammatory cascade as alternative key pathological process. The clinical manifestations may present with either early onset and multisystemic involvement (cutaneous, neurological, nephrological and the cardiovascular system) with a progressive disease nature in classic phenotype, or present with a later-onset course with predominant cardiac involvement (non-classical or cardiac variant; e.g. IVS4+919G>A in Taiwan) from missense variants. In either form, cardiac involvement is featured by progressive cardiac hypertrophy, myocardial fibrosis, various arrhythmias, and heart failure known as Fabry cardiomyopathy with potential risk of sudden cardiac death. Several plasma biomarkers and advances in imaging modalities along with novel parameters, cardiac magnetic resonance (CMR: native T1/T2 mapping) for myocardial tissue characterization or echocardiographic deformations, have shown promising performance in differentiating from other etiologies of cardiomyopathy and are presumed to be helpful in assessing the extent of cardiac involvement of FD and in guiding or monitoring subsequent treatment. Early recognition from extra-cardiac red flag signs either in classic form or red flags from cardiac manifestations in cardiac variants, and awareness from multispecialty team work remains the cornerstone for timely managements and beneficial responses from therapeutic interventions (e.g. oral chaperone therapy or enzyme replacement therapy) prior to irreversible organ damage. We aim to summarize contemporary knowledge based on literature review and the gap or future perspectives in clinical practice of FD-related cardiomyopathy in an attempt to form a current expert consensus in Taiwan.

SUBMITTER: Hung CL

PROVIDER: S-EPMC8261701 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:In view of the increasing complexity of both cardiovascular implantable electronic devices (CIEDs) and patients in the current era, practice guidelines, by necessity, have become increasingly specific. This document is an expert consensus statement that has been developed to update and further delineate indications and management of CIEDs in pediatric patients, defined as ≤21 years of age, and is intended to focus primarily on the indications for CIEDs in the setting of specific disease categories. The document also highlights variations between previously published adult and pediatric CIED recommendations and provides rationale for underlying important differences. The document addresses some of the deterrents to CIED access in low- and middle-income countries and strategies to circumvent them. The document sections were divided up and drafted by the writing committee members according to their expertise. The recommendations represent the consensus opinion of the entire writing committee, graded by class of recommendation and level of evidence. Several questions addressed in this document either do not lend themselves to clinical trials or are rare disease entities, and in these instances recommendations are based on consensus expert opinion. Furthermore, specific recommendations, even when supported by substantial data, do not replace the need for clinical judgment and patient-specific decision-making. The recommendations were opened for public comment to Pediatric and Congenital Electrophysiology Society (PACES) members and underwent external review by the scientific and clinical document committee of the Heart Rhythm Society (HRS), the science advisory and coordinating committee of the American Heart Association (AHA), the American College of Cardiology (ACC), and the Association for European Paediatric and Congenital Cardiology (AEPC). The document received endorsement by all the collaborators and the Asia Pacific Heart Rhythm Society (APHRS), the Indian Heart Rhythm Society (IHRS), and the Latin American Heart Rhythm Society (LAHRS). This document is expected to provide support for clinicians and patients to allow for appropriate CIED use, appropriate CIED management, and appropriate CIED follow-up in pediatric patients.

Project description:ObjectivesThis study aims to correlate subclinical echocardiographic features with the clinical, laboratory, and therapeutic profiles of the patients to characterize risks for systemic lupus erythematosus (SLE) cardiac diseases.MethodsThe study included 59 SLE patients. Demographic data, disease characteristics, and current therapies were recorded, and the anthropometric measurements and routine laboratory tests were performed. The disease activity by the SLE Disease Activity Index-2K (SLEDAI2K) and the presence of metabolic syndrome (MetS) were assessed. Two-dimensional echocardiography was performed.ResultsThe mean age of the patients was 31.3 ± 10.5 years, and the disease duration was 5.18 ± 4.1 years. 86.4% of the patients were females. Cardiac presentations by echocardiography were mainly mitral regurgitation (33.9%), tricuspid regurgitation (32.2%), mitral thickening (18.6%), aortic thickening (13.6%), pericardial effusion (13.6%), and pulmonary hypertension (8.5%) in order of frequency. The frequency of different echocardiographic findings with respect to other clinical phenotypes showed peaks with renal disease, MetS, and leukopenia. Components of MetS (triglycerides, high systolic blood pressure) and avascular necrosis were significant predictors for pericardial diseases (OR=1.011 CI 95% 1-1.022, p=0.046, OR=1.157 CI 95% 1.025-1.307, p=0.018, and OR=74.78 CI 95% 2.52-2215.76, p=0.013, respectively), and it is likely that hydroxychloroquine was protective against them. Age of the patients was a significant predictor for tricuspid regurgitation (OR=1.063 CI 95% 1.004-1.126, p=0.036). Mucosal ulcers were negative predictors for mitral thickening and regurgitation (OR=0.2 CI 95% 0.059-0.673, p=0.009). The use of corticosteroids appeared to protect against a number of valve lesions especially tricuspid regurgitation (OR=0.299 CI 95% 0.088-1.019, p=0.054).ConclusionThis study highlighted different echocardiographic features and identified clinical predictors of different cardiac pathologies aiming to determine patients at risk and improve the prognosis of SLE cardiac diseases.

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2021 TSOC Expert Consensus on the Clinical Features, Diagnosis, and Clinical Management of Cardiac Manifestations of Fabry Disease.

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