Danon Cardiomyopathy: Specific Imaging Signs

Danon disease (DD) is a rare, X-linked genetic disorder caused by LAMP2 deficiency. Clinical phenotype involves early cardiomyopathy development along with pre-excitation, skeletal myopathy, retinopathy, and cognitive impairment. We highlight how a noninvasive diagnostic approach based on clinical a...

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Detalles Bibliográficos
Autores principales: Miliou, Antigoni, Antonopoulos, Alexios S., Kouris, Nikos, Lazaros, George, Tsioufis, Konstantinos, Vlachopoulos, Charalambos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700059/
https://www.ncbi.nlm.nih.gov/pubmed/36444189
http://dx.doi.org/10.1016/j.jaccas.2022.08.007
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author Miliou, Antigoni
Antonopoulos, Alexios S.
Kouris, Nikos
Lazaros, George
Tsioufis, Konstantinos
Vlachopoulos, Charalambos
author_facet Miliou, Antigoni
Antonopoulos, Alexios S.
Kouris, Nikos
Lazaros, George
Tsioufis, Konstantinos
Vlachopoulos, Charalambos
author_sort Miliou, Antigoni
collection PubMed
description Danon disease (DD) is a rare, X-linked genetic disorder caused by LAMP2 deficiency. Clinical phenotype involves early cardiomyopathy development along with pre-excitation, skeletal myopathy, retinopathy, and cognitive impairment. We highlight how a noninvasive diagnostic approach based on clinical and imaging red flags for DD can be employed to raise high clinical suspicion for DD, which was confirmed by genetic testing results. (Level of Difficulty: Intermediate.)
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spelling pubmed-97000592022-11-27 Danon Cardiomyopathy: Specific Imaging Signs Miliou, Antigoni Antonopoulos, Alexios S. Kouris, Nikos Lazaros, George Tsioufis, Konstantinos Vlachopoulos, Charalambos JACC Case Rep Case Report Danon disease (DD) is a rare, X-linked genetic disorder caused by LAMP2 deficiency. Clinical phenotype involves early cardiomyopathy development along with pre-excitation, skeletal myopathy, retinopathy, and cognitive impairment. We highlight how a noninvasive diagnostic approach based on clinical and imaging red flags for DD can be employed to raise high clinical suspicion for DD, which was confirmed by genetic testing results. (Level of Difficulty: Intermediate.) Elsevier 2022-11-16 /pmc/articles/PMC9700059/ /pubmed/36444189 http://dx.doi.org/10.1016/j.jaccas.2022.08.007 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Miliou, Antigoni
Antonopoulos, Alexios S.
Kouris, Nikos
Lazaros, George
Tsioufis, Konstantinos
Vlachopoulos, Charalambos
Danon Cardiomyopathy: Specific Imaging Signs
title Danon Cardiomyopathy: Specific Imaging Signs
title_full Danon Cardiomyopathy: Specific Imaging Signs
title_fullStr Danon Cardiomyopathy: Specific Imaging Signs
title_full_unstemmed Danon Cardiomyopathy: Specific Imaging Signs
title_short Danon Cardiomyopathy: Specific Imaging Signs
title_sort danon cardiomyopathy: specific imaging signs
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700059/
https://www.ncbi.nlm.nih.gov/pubmed/36444189
http://dx.doi.org/10.1016/j.jaccas.2022.08.007
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