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

Overview

Journal J Clin Med

Specialty General Medicine

Date 2020 Aug 29

PMID 32854327

Citations 7

Authors

Roberta Esposito

Camilla Russo

Ciro Santoro

Sirio Cocozza

Eleonora Riccio

Regina Sorrentino

Giuseppe Pontillo

Federica Luciano

Massimo Imbriaco

Arturo Brunetti

Antonio Pisani

Affiliations

Soon will be listed here.

Abstract

Anderson-Fabry disease (AFD) can induce both central nervous system white matter lesions (WMLs) and cardiac abnormalities including left atrial (LA) dysfunction. We sought to evaluate the possible interrelations of LA structure and function impairment with the presence of WMLs in AFD patients. Methods 22 AFD patients and 22 controls, matched for age and sex, underwent an echo-Doppler exam including quantification of peak atrial longitudinal strain (PALS). AFD patients underwent also a 3-T brain magnetic resonance imaging with a visual quantification of WMLs by Fazekas' score (FS) on 3D FLAIR images. Results AFD patients had significantly higher left ventricular (LV) mass index (LVMi) and relative wall thickness, and lower PALS compared to controls. Among AFD patients, 9 showed a FS = 0, and 13 a FS > 1. AFD patients with FS ≥ 1 showed lower PALS (29.4 ± 6.7 vs. 37.2 ± 3.9%, = 0.003) than those with FS = 0, without difference in LA volume index and LVMi. In AFD patients, FS was inversely related to PALS (r = -0.49, < 0.0001), even after adjusting for LVMi (r = -0.43, < 0.05). Conclusions In the absence of significant alterations in LA size, AFD patients had lower PALS compared to controls. The inverse association between PALS and presence of WMLs indicates a possible parallel early involvement of heart and brain.

Citing Articles

Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.

Di Natale D, Rossi S, Dalla Zanna G, Funcis A, Nicoletti T, Sicignano L Brain Sci. 2025; 15(2).

PMID: 40002499 PMC: 11852458. DOI: 10.3390/brainsci15020166.

Cardiac involvement in Anderson-Fabry disease. The role of advanced echocardiography.

Spinelli L, Bianco A, Riccio E, Pisani A, Iaccarino G Front Cardiovasc Med. 2024; 11:1440636.

PMID: 39314767 PMC: 11417619. DOI: 10.3389/fcvm.2024.1440636.

Echocardiography in Anderson-Fabry Disease.

Lillo R, Pieroni M, Camporeale A, Ciabatti M, Lombardo A, Massetti M Rev Cardiovasc Med. 2024; 23(6):201.

PMID: 39077168 PMC: 11274060. DOI: 10.31083/j.rcm2306201.

In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry.

Pontillo G, Tranfa M, Scaravilli A, Monti S, Capuano I, Riccio E Neuroradiology. 2024; 66(9):1593-1601.

PMID: 38771548 PMC: 11322198. DOI: 10.1007/s00234-024-03380-5.

Left Atrial Strain in Cardiomyopathies and Congenital Heart Disease: A Call for Its Integration into Clinical Practice.

Pelaia G, Concolino D, Sabatino J J Clin Med. 2023; 12(15).

PMID: 37568486 PMC: 10419718. DOI: 10.3390/jcm12155084.

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