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

Aquaro, Giovanni Donato; Gori, Carmelo De; Faggioni, Lorenzo; Parisella, Maria Luisa; Aringhieri, Giacomo; Cioni, Dania; Lencioni, Riccardo; Neri, Emanuele

doi:10.3390/diagnostics12112652

Cited by 11 publications

(14 citation statements)

References 61 publications

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“…The prevalence of atrial brillation was higher than expected due to the age and comorbidities of our cohort and is almost four times higher than that described in other series, where it affects almost 4% of the population 11 .…”

Section: Discussioncontrasting

confidence: 77%

“…Reports show that patients carrying the F113L variant usually develop symptoms at the age of 47, whereas in our cohort, men developed symptoms at 36. Likewise, LVH affected 35% of the cohort and speci cally 45% of men; this is much lower than that described in the literature, which reaches almost 75% of the male population and almost 25% of women with non-classical variants 11 .…”

Section: Discussionmentioning

confidence: 54%

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Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease

Blanco,

Rico,

Ameijeiras

et al. 2023

Preprint

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Introduction: The Arg301Gln variant in the GLA gene has been poorly described in the literature. The few reports demonstrate different patterns of presentation of both classical and non-classical Anderson–Fabry (FD) disease, which develops later in life and with less organ damage. The aim of this study was to analyse the penetrance, clinical phenotype, and biochemical profile of an international cohort of patients carrying the Arg301Gln genetic variant in the GLA gene. Methods: This is a retrospective observational multicentre study of patients carrying the Arg301Gln variant in the GLA gene associated with FD disease. Results: Forty-nine Arg301Gln GLA carriers, 41% male, were analysed. The penetrance was 63% in the entire cohort and 1.5 times higher in men. The mean age of onset of symptoms was 41 years; men presented symptoms earlier and with a shorter delay to diagnosis compared to women. The classic presentation affected only 20% of the cohort, with no differences between sexes. During follow-up, almost 20% of the patients presented some type of non-fatal cardiovascular event (stroke, need for dialysis, heart failure, and arrhythmias requiring intracardiac devices), predominantly affecting men. Only a few women had normal levels of α-galactosidase A enzyme activity; residual levels were the most common finding. The incidence of combined events, including all causes of death, was 33%, and the cumulative incidence of all-cause mortality was 9%. Conclusions: Patients carrying the Arg301Gln variant in the GLA gene have a high penetrance of cardiorenal involvement with the clinical onset of the disease in middle age, and only a very low proportion showed the classical clinical presentation of FD. As in other X-linked diseases, males were more affected by severe cardiovascular and renal events. This genotype–phenotype correlation could be useful from a practical clinical point of view and for future decision-making.

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Section: Discussioncontrasting

confidence: 77%

Section: Discussionmentioning

confidence: 54%

Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease

Blanco,

Rico,

Ameijeiras

et al. 2023

Preprint

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“…In involved hearts, lysosomal sphingolipids increases myocyte dimensions causing hypertrophy which is concentric in most of cases, although in 9% cases of cases asymmetrical hypertrophy was described. 20 Myocytes hypertrophy decreases interstitial space. Then, LGE is only seen in more advanced stage, when there is a sufficient amount of necrotic myocytes and macroscopic fibrosis that increases the interstitial space.…”

Section: Qualitative and Quantitative Assessment Of Lgementioning

confidence: 99%

“… 11 However, in 7% of cases LGE may be found in other wall as in the interventricular septum or in the LV apex. 20 …”

Section: Qualitative and Quantitative Assessment Of Lgementioning

confidence: 99%

Diagnostic and prognostic role of late gadolinium enhancement in cardiomyopathies

Aquaro

Gori

Faggioni

et al. 2023

European Heart Journal Supplements

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Late gadolinium enhancement (LGE) is the most relevant tool of cardiac magnetic resonance for tissue characterization, and it plays a pivotal role for diagnostic and prognostic assessment of cardiomyopathies. The pattern of presentation of LGE allows differential diagnosis between ischaemic and non-ischaemic heart disease with high diagnostic accuracy, and among different cardiomyopathies, specific presentation of LGE may help to make a diagnosis. Late gadolinium enhancement may be caused by conditions that significantly increase the interstitial space or, less frequently, that slow down Gd exit, like myocardial fibrosis. In chronic myocardial infarction, hypertrophic cardiomyopathies (HCM), dilated cardiomyopathy, Fabry disease, and other conditions, LGE is a marker of myocardial fibrosis, but also in patients with acute myocarditis where LGE may be also explained by the increase of interstitial space caused by interstitial oedema or by tissue infiltration of inflammatory cells. In cardiac amyloidosis, LGE represents myocardial fibrosis but the interstitial overload of amyloid proteins should also be considered as a potential cause of LGE. The identification of the pattern of presentation of LGE is also very important. In the ischaemic pattern, LGE always involves the subendocardial layer with more or less transmural extent, it is confluent, and every single scar should be located in the territory of one coronary artery. In the non-ischaemic pattern, LGE does not fulfil the previous criteria, being midwall, subepicardial, or mixed, not necessarily confluent or confined to a territory of one coronary artery. For cardiomyopathies, the exact pattern of non-ischaemic LGE is important. Quantitative analysis of LGE is required in some specific conditions as in HCM. Magnetic resonance imaging with LGE technique should be performed in every patient with suspect of cardiomyopathy. The lack of standardization of pulse sequence and mostly of quantification methods is the main limitation of LGE technique.

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“…The presence of LGE was evaluated measured using a previously validated method. Criteria for CMR diagnosis of different cardiac conditions are showed in table 1 and 2 (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24).…”

Section: Cmr Post-processingmentioning

confidence: 99%

Diagnostic Role of Native T1 mapping Compared to Conventional Magnetic Resonance Techniques in Cardiac Disease in a Real-life Cohort

Aquaro¹,

Monastero²,

Todiere³

et al. 2023

Preprint

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We sought to compare native T1 mapping to conventional Late gadolinium enhancement (LGE) and T2-STIR techniques in a cohort of consecutive patients undergoing cardiac MRI (CMR).. CMR was performed in 323 patients, 206 males (64%), mean age 54±8 years and in 27 age- and sex- matched healthy controls. At T2-STIR images myocardial hyperintensity suggesting edema was found in 41 patients (27%). LGE images were positive in 206 patients (64%). T1 mapping was abnormal in 171 (49%). In 206 patients (64%) a matching between LGE and native T1 was found. T1 was abnormal in 32 out of 41 (78%) with edema at T2-STIR. Overall, LGE and/or T2-STIR were abnormal in 209 patients, whereas native T1 in 154(52%). Conventional techniques and T1 mapping were concordant in 208 patients (64%). In 39 patients T1 mapping was positive despite negative conventional techniques (12%). T1 mapping was able in conditions with diffuse myocardial damage as cardiac amyloidosis, scleroderma and Fabry disease (additive role in 42%). On contrast, T1 mapping was less effective in cardiac disease with regional distribution of myocardial damage as myocardial infarction, HCM, myocarditis. In conclusion, conventional LGE/T2-STIR and T1 mapping are complementary techniques and should be used together in every CMR examination.

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

Cited by 11 publications

References 61 publications

Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease

Phenotypic expression and outcomes in patients with the Arg301Gln GLA variant in Anderson-Fabry disease

Diagnostic and prognostic role of late gadolinium enhancement in cardiomyopathies

Diagnostic Role of Native T1 mapping Compared to Conventional Magnetic Resonance Techniques in Cardiac Disease in a Real-life Cohort

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