Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

Sechi, Annalisa; Nucifora, Gaetano; Piccoli, Gianluca; Dardis, Andrea; Bembi, Bruno

doi:10.1186/1471-2261-14-86

Cited by 4 publications

(4 citation statements)

References 16 publications

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“…However, our observation of LGE in two males who did not have increased LVM index highlights that this is not entirely a female phenomenon. The only other support of this concept of early fibrosis prior to hypertrophy in males is a recent case report documenting it in a 19-year-old male 16. It is likely that this important observation has not been frequently observed because of the paucity of CMR studies in Fabry disease at early stages.…”

Section: Discussionmentioning

confidence: 99%

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR

Kozor

Grieve

Tchan

et al. 2016

Heart

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Section: Discussionmentioning

confidence: 99%

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR

Kozor

Grieve

Tchan

et al. 2016

Heart

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“…The typical LGE pattern of cardiac amyloidosis is diffuse subendocardial or transmural, which provides not only high sensitivity and specificity for diagnosis but also a strong prognostic value for all-cause mortality ( 107 – 109 ). Myocardial fibrosis can be the first sign of organ involvement in patients with Anderson-Fabry disease ( 110 ) and it typically presents LGE in the basal inferolateral myocardium ( 111 ).…”

Section: Detection: Laboratory Biomarkers and Imaging Techniquesmentioning

confidence: 99%

Detection of myocardial fibrosis: Where we stand

Zhu

Zhao

Lü

2022

Front. Cardiovasc. Med.

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Myocardial fibrosis, resulting from the disturbance of extracellular matrix homeostasis in response to different insults, is a common and important pathological remodeling process that is associated with adverse clinical outcomes, including arrhythmia, heart failure, or even sudden cardiac death. Over the past decades, multiple non-invasive detection methods have been developed. Laboratory biomarkers can aid in both detection and risk stratification by reflecting cellular and even molecular changes in fibrotic processes, yet more evidence that validates their detection accuracy is still warranted. Different non-invasive imaging techniques have been demonstrated to not only detect myocardial fibrosis but also provide information on prognosis and management. Cardiovascular magnetic resonance (CMR) is considered as the gold standard imaging technique to non-invasively identify and quantify myocardial fibrosis with its natural ability for tissue characterization. This review summarizes the current understanding of the non-invasive detection methods of myocardial fibrosis, with the focus on different techniques and clinical applications of CMR.

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“…70 Women may develop fibrosis without LVH, and recently, this behavior in young male patients with FD has also been observed. 8,71 Typically, cardiologists tend to diagnose FD late, and unfortunately, cardiac involvement is the leading cause for the substantially increased morbidity and death in these patients. 32,72,73 In advanced stages of the disease, patients may develop conduction disorders, arrhythmias, progressive deterioration of ventricular function, and so on, which determine increased risk of stroke due to atrial fibrillation (AF), death from heart failure, and SCD.…”

Section: Prognosis and Treatmentmentioning

confidence: 99%

Cardiac Manifestation of Fabry Disease

Fernández

Politei

2016

Journal of Inborn Errors of Metabolism and Screening

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Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease may be expressed as left ventricular hypertrophy (LVH), coronary disease, atrioventricular conduction disturbances, arrhythmias, and valvular involvement. The exact mechanism by which hypertrophy and fibrosis in the heart occur is not fully understood. Lysosomal globotriaosylceramide accumulation in the myocardium is responsible for only 3% of the mass in the hypertrophic heart, indicating that the LVH is not a direct result of substrate infiltration. One of the most important contributions that cardiologists can make is to consider the diagnosis of Fabry disease in patients with cardiac manifestations preceding the development of LVH and conduct family screening to identify patients with early cardiac involvement which will benefit more from enzyme replacement therapy (ERT). Fabry patients without cardiac manifestations of the disease should be evaluated annually by a cardiologist specialized in Fabry disease, regardless of the indication for ERT.

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Myocardial fibrosis as the first sign of cardiac involvement in a male patient with Fabry disease: report of a clinical case and discussion on the utility of the magnetic resonance in Fabry pathology

Cited by 4 publications

References 16 publications

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR

Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR

Detection of myocardial fibrosis: Where we stand

Cardiac Manifestation of Fabry Disease

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