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Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report
Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases. Although cardiac MRI is already used for the diagnosis and chara...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441750/ https://www.ncbi.nlm.nih.gov/pubmed/36071899 http://dx.doi.org/10.3389/fneur.2022.942667 |
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author | Todiere, Giancarlo Della Vecchia, Stefania Morales, Maria Aurora Barison, Andrea Ricca, Ivana Tessa, Alessandra Colombi, Elisa Santorelli, Filippo Maria |
author_facet | Todiere, Giancarlo Della Vecchia, Stefania Morales, Maria Aurora Barison, Andrea Ricca, Ivana Tessa, Alessandra Colombi, Elisa Santorelli, Filippo Maria |
author_sort | Todiere, Giancarlo |
collection | PubMed |
description | Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases. Although cardiac MRI is already used for the diagnosis and characterization of some forms of storage diseases involving the myocardium, it has not yet been used to study myocardial involvement in neuronal ceroid lipofuscinosis (NCL). Here, we describe comprehensive cardiac MRI findings in a patient with the CLN3 form of NCL showing basal inferior interventricular septal hypertrophy with maintained indexed LV mass within reference values and low T1-native values. MRI findings support a finding of abnormal storage material within the myocardium in CLN3 disease. We recommend the possible routine use of cardiac MRI for early diagnosis of cardiac involvement in CLN3 disease (also termed juvenile NCL) and to monitor the effects of emerging CLN3 therapies on the myocardium as well. |
format | Online Article Text |
id | pubmed-9441750 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-94417502022-09-06 Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report Todiere, Giancarlo Della Vecchia, Stefania Morales, Maria Aurora Barison, Andrea Ricca, Ivana Tessa, Alessandra Colombi, Elisa Santorelli, Filippo Maria Front Neurol Neurology Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases. Although cardiac MRI is already used for the diagnosis and characterization of some forms of storage diseases involving the myocardium, it has not yet been used to study myocardial involvement in neuronal ceroid lipofuscinosis (NCL). Here, we describe comprehensive cardiac MRI findings in a patient with the CLN3 form of NCL showing basal inferior interventricular septal hypertrophy with maintained indexed LV mass within reference values and low T1-native values. MRI findings support a finding of abnormal storage material within the myocardium in CLN3 disease. We recommend the possible routine use of cardiac MRI for early diagnosis of cardiac involvement in CLN3 disease (also termed juvenile NCL) and to monitor the effects of emerging CLN3 therapies on the myocardium as well. Frontiers Media S.A. 2022-08-22 /pmc/articles/PMC9441750/ /pubmed/36071899 http://dx.doi.org/10.3389/fneur.2022.942667 Text en Copyright © 2022 Todiere, Della Vecchia, Morales, Barison, Ricca, Tessa, Colombi and Santorelli. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Todiere, Giancarlo Della Vecchia, Stefania Morales, Maria Aurora Barison, Andrea Ricca, Ivana Tessa, Alessandra Colombi, Elisa Santorelli, Filippo Maria Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report |
title | Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report |
title_full | Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report |
title_fullStr | Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report |
title_full_unstemmed | Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report |
title_short | Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report |
title_sort | cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: a case report |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9441750/ https://www.ncbi.nlm.nih.gov/pubmed/36071899 http://dx.doi.org/10.3389/fneur.2022.942667 |
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