Observational studyHeart (British Cardiac Society)2021
Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.
Observational study in Heart (British Cardiac Society), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Fabry disease and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China.Annals of medicine · 2026Article
- The impact of cardiovascular risk factors in non-classical Fabry disease.Orphanet journal of rare diseases · 2026Article
- Article
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- A composite measurement concept for monitoring cardiac function in Fabry disease.Orphanet journal of rare diseases · 2025Article
- Current treatment status of fabry disease in South Korea: a longitudinal National health insurance service data-based study.Orphanet journal of rare diseases · 2025Article
- Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach.JIMD reports · 2025Article
- Effects of Current Therapies on Disease Progression in Fabry Disease: A Narrative Review for Better Patient Management in Clinical Practice.Advances in therapy · 2025Review
- Finding Fabry: a survey on missed opportunities for detection and diagnosis of Fabry disease in patients with LVH.The British journal of cardiology · 2025Article
- Inferolateral Fibrosis in a Nonhypertrophic Left Ventricle.JACC. Case reports · 2024Article
- Establishing Treatment Effectiveness in Fabry Disease: Observation-Based Recommendations for Improvement.International journal of molecular sciences · 2024Review
- Transcatheter Edge-to-Edge Mitral Valve Repair in a Patient With Anderson-Fabry Disease.JACC. Case reports · 2024Article
- Impact of Nontreatment Duration and Keratopathy on Major Adverse Cardiovascular Events in Fabry Disease: A Nationwide Cohort Study.Journal of clinical medicine · 2024Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study.Diagnostics (Basel, Switzerland) · 2023Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study describes the influence of sex and disease phenotype on the occurrence of cardiac events in Fabry disease (FD).
methodsCardiac events from birth to last visit (median age 50 years) were recorded for 213 patients with FD. Patients were categorised as follows : men with classical FD (n=57), men with non-classical FD (n=26), women with classical FD (n=98) and women with non-classical FD (n=32), based on the presence of classical FD symptoms, family history (men and women), biomarkers and residual enzyme activity (men). Event rates per 1000 patient-years after the age of 15 years and median event-free survival (EVS) age were presented. Influence of disease phenotype, sex and their interaction was studied using Firth's penalised Cox regression.
resultsThe event rates of major cardiovascular events (combined endpoint cardiovascular death (CVD), heart failure (HF) hospitalisation, sustained ventricular arrhythmias (SVAs) and myocardial infarction) were 11.0 (95% CI 6.6 to 17.3) in men with classical FD (EVS 55 years), 4.4 (95% CI 2.5 to 7.1) in women with classical FD (EVS 70 years) and 5.9 (95% CI 2.6 to 11.6) in men with non-classical FD (EVS 70 years). None of these events occurred in women with non-classical FD. Sex and phenotype significantly influenced the risk of major adverse cardiovascular event. CVD was the leading cause of death (75%) to which HF contributed most (42%). The overall rate of SVA was low (14 events in nine patients (4%)).
conclusionsSex and phenotype greatly influence the risk and age of onset of cardiac events in FD. This indicates the need for patient group-specific follow-up and treatment.
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