ReviewDiagnostics (Basel, Switzerland)2022
Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features.
Review in Diagnostics (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Cardiac Magnetic Resonance Radiomics for Diagnosis, Phenotyping and Risk Stratification of Cardiomyopathies.Healthcare (Basel, Switzerland) · 2026Review
- Age-, sex-, and segment-specific myocardial T1 and T2 reference values in a healthy cohort: a prospective single-center study.Clinical research in cardiology : official journal of the German Cardiac Society · 2026Article
- Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment.Orphanet journal of rare diseases · 2026Review
- Fabry cardiomyopathy presenting as hypertrophic phenotype with left ventricular outflow tract obstruction: a case series.Frontiers in cardiovascular medicine · 2026Article
- Role of Cardiac Magnetic Resonance in Inflammatory and Infiltrative Cardiomyopathies: A Narrative Review.Journal of clinical medicine · 2024Review
- Sudden cardiac death during scuba diving: a case report of a patient with unknown hypertrophic cardiomyopathy.European heart journal. Case reports · 2024Article
- Phenotypic Expression and Outcomes in Patients with the p.Arg301GlnInternational journal of molecular sciences · 2024Observational
- Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art.Diagnostics (Basel, Switzerland) · 2023Review
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic brain disease · 2023Article
- Diagnostic Role of Native T1 Mapping Compared to Conventional Magnetic Resonance Techniques in Cardiac Disease in a Real-Life Cohort.Diagnostics (Basel, Switzerland) · 2023Article
- Diagnostic and prognostic role of late gadolinium enhancement in cardiomyopathies.European heart journal supplements : journal of the European Society of Cardiology · 2023Article
- Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies.Frontiers in cardiovascular medicine · 2023Review
- How to Do Echo in Left Ventricular Hypertrophy: A Consensus Statement of the Italian Society of Echocardiography and Cardiovascular Imaging.Journal of cardiovascular echographyArticle
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is an X-linked inheritable storage disease caused by a deficiency of alpha-galactosidase causing lysosomal overload of sphingolipids. FD cardiomyopathy is characterized by left ventricular (LV) hypertrophy and should be considered in differential diagnosis with all the other causes of LV hypertrophy. An early diagnosis of FD is very important because the enzyme replacement therapy (ERT) may change the fate of patients by blocking both cardiac and systemic involvement and improving prognosis. Diagnosis may be relatively easy in young patients with the typical signs and symptoms of FD, but in male patients with late onset of disease and in females, diagnosis may be very challenging. Morphological and functional aspects are not specific to FD, which cannot be diagnosed or excluded by echocardiography. Cardiac magnetic resonance (CMR) with tissue characterization capability is an accurate technique for the differential diagnosis of LV hypertrophy. The finding of decreased myocardial T1 value in LV hypertrophy is specific to FD. Late gadolinium enhancement (LGE) is found in the late stage of the disease, but it is useful to predict the cardiac response to ERT and to stratify the prognosis.
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