Association between Left Atrial Deformation and Brain Involvement in Patients with Anderson-Fabry Disease at Diagnosis

Esposito, Roberta; Russo, Camilla; Santoro, Ciro; Cocozza, Sirio; Riccio, Eleonora; Sorrentino, Regina; Pontillo, Giuseppe; Luciano, F; Imbriaco, Massimo; Brunetti, Arturo; Pisani, Antonio

doi:10.3390/jcm9092741

Cited by 9 publications

(7 citation statements)

References 43 publications

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“…Left atrial (LA) systolic and early diastolic strain rate were found preferentially reduced in patients with LVH, but LA systolic strain was decreased even before LVH [ 96 ]. Peak atrial longitudinal strain was inversely associated to Fazekas score of brain white matter lesions, even after adjusting for LV mass index [ 97 ]. Atrial dilation is associated to the occurrence of atrial fibrillation [ 98 ], which also contributes to heart failure.…”

Section: Cardiac Manifestations Of Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD. In the last years, knowledge has substantially evolved on the pathophysiological mechanisms leading to cardiac damage, the natural history of cardiac manifestations, the late-onset phenotypes with predominant cardiac involvement, the early markers of cardiac damage, the role of multimodality cardiac imaging on the diagnosis, management and follow-up of Fabry patients, and the cardiac efficacy of available therapies. Herein, we provide a comprehensive and integrated review on the cardiac involvement of FD, at the pathophysiological, anatomopathological, laboratory, imaging, and clinical levels, as well as on the diagnosis and management of cardiac manifestations, their supportive treatment, and the cardiac efficacy of specific therapies, such as enzyme replacement therapy and migalastat.

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Section: Cardiac Manifestations Of Fdmentioning

confidence: 99%

Fabry Disease and the Heart: A Comprehensive Review

Azevedo

Cordeiro

Gago

et al. 2021

IJMS

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“…In this context, LALS might be a sensitive marker of preclinical insult, translating diastolic impairment and a rise in filling pressures [ 33 , 34 ], as shown in children [ 27 , 28 ]. Atrial strain has emerged as a sensitive tool in early detection of subtle or early changes in the setting of various cardiac conditions such as atrial fibrillation, valvulopathies, systemic diseases, heart failure with preserved ejection fraction and diastolic dysfunction [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. LALS changes usually precede other structural variations such as left atrial volume increase and systolic dysfunction in heart failure.…”

Section: Discussionmentioning

confidence: 99%

“…Left atrial longitudinal strain (LALS) has recently emerged as a useful tool, generating independent added value in different scenarios such as valvulopathies, atrial fibrillation, heart failure and systemic diseases [ 1 , 2 , 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 ]. It has also been postulated as a means for evaluating diastolic function and left ventricular filling pressures [ 11 , 12 , 13 , 14 ], reported to be altered in acute cellular rejection (ACR) episodes in heart transplant (HTx) recipients [ 15 , 16 ].…”

Section: Introductionmentioning

confidence: 99%

The Role of Left Atrial Longitudinal Strain in the Diagnosis of Acute Cellular Rejection in Heart Transplant Recipients

Diego

Ruiz‐Ortiz

Delgado-Ortega

et al. 2022

JCM

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Our aim was to investigate the role of left atrial longitudinal strain (LALS) in the non-invasive diagnosis of acute cellular rejection (ACR) episodes in heart transplant (HTx) recipients. Methods: We performed successive echocardiographic exams in 18 consecutive adult HTx recipients in their first year after HTx within 3 h of the routine surveillance endomyocardial biopsies (EMB) in a single center. LALS parameters were analyzed with two different software. We investigated LALS association with ACR presence, as well as inter-vendor variability in comparable LALS values. Results: A total of 147 pairs of EMB and echo exams were carried out. Lower values of LALS were significantly associated with any grade of ACR presence. Peak atrial longitudinal strain (PALS) offered the best diagnostic value for any grade of ACR, with a C statistic of 0.77 using one software (95% CI 0.68–0.84, p < 0.0005) and 0.64 with the other (95% CI 0.54–0.73, p = 0.013) (p = 0.02 for comparison between both curves). Reproducibility between comparable LALS parameters was poor (intraclass correlation coefficients were 0.60 for PALS, 95% CI 0.42–0.73, p < 0.0005; and 0.42 for PALS rate, 95% CI −0.13–0.68, p < 0.0005). Conclusions: LALS variables might be a sensitive marker of ACR in HTx recipients, principally discriminating between those studies without rejection and those with any grade of ACR. Inter-vendor variability was significant.

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“…These findings were notable because LA dilatation and impaired LA function correlated with the quantity of white matter lesions on cerebral MRI and high Fazekas score. The exact aetiology of white matter lesions in FD is uncertain but these data raise the possibility that altered atrial size and function may predispose the FD patient to atrial arrhythmia and stroke, in addition to simultaneous sphingolipid accumulation in the heart and brain [67].…”

Section: Arrhythmiamentioning

confidence: 99%

Multi-Modality Cardiovascular Imaging Assessment in Fabry Disease

et al. 2022

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Fabry disease (FD) is a rare X-linked lysosomal storage disorder manifesting as progressive multi-organ accumulation of sphingolipids due to deficiency in the enzyme α-Galactosidase A. Sphingolipid accumulation can take place in all cardiac cell types which manifests as left ventricular hypertrophy, microvascular ischaemia, conduction abnormalities, arrhythmia, heart failure, and valvular disease. The use of advanced cardiovascular imaging techniques have enabled clinicians to stage and prognosticate the disease and guide therapy. Transthoracic echocardiography (TTE) and cardiac magnetic resonance imaging (CMR) in conjunction are the hallmark imaging modalities to allow for this assessment. Traditionally, the assessment of cardiac involvement in FD was based on the assessment of maximal wall thickness (MWT) and the development of left ventricular hypertrophy (LVH). It is now understood that sphingolipid accumulation takes place before the development of LVH. Advances in techniques within TTE and CMR, particularly that of strain assessment and T1/T2 mapping, have meant that Fabry cardiomyopathy (FCM) can be diagnosed earlier in the disease process. This potentially provides a window for initiation of enzyme replacement therapy (ERT) at a stage where it is likely to have the most beneficial effect in reducing the high mortality associated with FCM. This review outlines the advances in multimodality imaging in staging and prognosticating FCM, as well as the applications of cardiac imaging in assessing symptoms and complications of FCM.

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Association between Left Atrial Deformation and Brain Involvement in Patients with Anderson-Fabry Disease at Diagnosis

Cited by 9 publications

References 43 publications

Fabry Disease and the Heart: A Comprehensive Review

Fabry Disease and the Heart: A Comprehensive Review

The Role of Left Atrial Longitudinal Strain in the Diagnosis of Acute Cellular Rejection in Heart Transplant Recipients

Multi-Modality Cardiovascular Imaging Assessment in Fabry Disease

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