Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future

Esposito, Roberta; Santoro, Ciro; Mandoli, Giulia Elena; Cuomo, Vittoria; Sorrentino, Regina; Mura, L La; Pastore, María; Bandera, Francesco; D’Ascenzi, Flavio; Malagoli, Alessandro; Benfari, Giovanni; D’Andrea, Antonello; Cameli, Matteo

doi:10.3390/jcm10091994

Cited by 12 publications

(10 citation statements)

References 99 publications

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“…This reclassification of a diagnosis has important implications for the clinical management of patients and for prognostic evaluation. CMR has the unique capability to detect sphingolipids overload by using the T1 mapping technique and to provide prognostic information through the assessment of myocardial fibrosis with the late gadolinium enhancement (LGE) technique [ 8 ]. The aim of this review is to discuss the role of CMR in FD.…”

Section: Introductionmentioning

confidence: 99%

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features

et al. 2022

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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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Section: Introductionmentioning

confidence: 99%

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features

et al. 2022

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“…In contrast, the discriminatory ability of CS did not change from baseline to follow-up. LS is the most sensitive strain parameter to detect subtle impairments of contractile function in coronary artery disease [20,21] and other diseases [22][23][24]. Therefore, the findings of LS in the current study, including the inferior discriminatory ability of LS for transmural scars at baseline, improvement of discriminatory ability at follow-up, and the significant association between changes in LS and those in MPR, might have been caused in part by the high sensitivity of LS for ischemic status.…”

Section: Strain Parameters For the Detection Of Left Ventricular Functional Improvement By Cto-pcimentioning

confidence: 63%

Non-Invasive Evaluation of Patients Undergoing Percutaneous Coronary Intervention for Chronic Total Occlusion

Nakatani

Kato

Saito

et al. 2021

JCM

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Background: As percutaneous coronary intervention (PCI) for chronic total occlusion (CTO) gains wider acceptance as a therapeutic option for coronary artery disease, the importance of appropriate patient selection has increased. Although cardiovascular magnetic resonance imaging (MRI) allows segmental and quantitative analyses of myocardial ischemia and scar transmurality, it has limitations, including contraindications, cost, and accessibility. This study established a non-invasive method to evaluate patients undergoing CTO-PCI using two-dimensional speckle-tracking echocardiography (2D-STE). Methods: Overall, we studied 55 patients who underwent successful CTO-PCI. Cardiovascular MRI and 2D-STE were performed before and 8 ± 2 months after CTO-PCI. Segmental findings of strain parameters were compared with those obtained with late gadolinium enhancement and stress-perfusion MRI. Results: With a cutoff of −10.7, pre-procedural circumferential strain (CS) showed reasonable sensitivity (71%) and specificity (73%) for detecting segments with transmural scar. The discriminatory ability of longitudinal strain (LS) for segments with transmural scar significantly improved during follow-up after successful CTO-PCI in the territory of the recanalized artery (area under the curve (AUC) 0.70 vs. 0.80, p < 0.001). LS accuracy was lower than that of CS at baseline (AUC 0.70 vs. 0.79, p = 0.048), and was increased at follow-up (AUC 0.80 vs. 0.82, p = 0.81). Changes in myocardial perfusion reserve from baseline to follow-up were significantly associated with those in LS but not in CS. Conclusions: Use of 2D-STE may allow the non-invasive evaluation of patients undergoing CTO-PCI to assess the indication before the procedure and treatment effects at follow-up.

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“…It provides accurate assessment of LV size, mass, and myocardial fibrosis involvement. Representative CMR features include late gadolinium enhancement (LGE) distinctively starting from the basal inferolateral wall and reduced T1 values in the affected area [ 4 , 5 , 13 ].…”

Section: Discussionmentioning

confidence: 99%

Unexplained Left Ventricular Hypertrophy with Symptomatic High-Grade Atrioventricular Block in Elderly Patients: A Case Report

Chen

2022

JCM

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Left ventricular hypertrophy (LVH) is common among older adults. Amidst all causes, Fabry disease (FD) should be considered when LVH occurs with family history, specific clinical manifestations, or cardiac alert signs. Here, we report a case of a 76-year-old male who presented late onset concentric LVH with symptomatic high-grade atrioventricular (AV) block. After dual-chamber pacemaker implantation, interrogation revealed frequent right ventricular (RV) pacing with a wide QRS duration. The patient developed heart failure symptoms with rapid deterioration of LV systolic function. Pacing-induced cardiomyopathy (PICM) was suspected, and the pacemaker was upgraded to biventricular pacing. Further FD surveys were performed, including biochemical examinations, cardiac biopsies, and genetic sequencing, and the patient was ultimately diagnosed with a cardiac variant of FD. Particularly, we strongly suggest that physiologic pacing should be initially considered for patients with FD who have symptomatic high-grade AV block, rather than traditional RV pacing to prevent PICM.

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Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future

Cited by 12 publications

References 99 publications

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features

Cardiac Magnetic Resonance in Fabry Disease: Morphological, Functional, and Tissue Features

Non-Invasive Evaluation of Patients Undergoing Percutaneous Coronary Intervention for Chronic Total Occlusion

Unexplained Left Ventricular Hypertrophy with Symptomatic High-Grade Atrioventricular Block in Elderly Patients: A Case Report

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