Prevalence of papillary muscle hypertrophy in fabry disease
© 2023. BioMed Central Ltd., part of Springer Nature..
BACKGROUND AND AIMS: Fabry disease (FD) is an X-linked genetic lysosomal disease, in which a deficit in the alpha-galactosidase A enzyme results in lysosomal build-up of globotriaosylceramide in several organs, causing cardiac, renal and cerebrovascular complications. The aim of this study was to assess the prevalence of papillary muscle hypertrophy (PMH) in patients with FD.
METHODS: A group of 63 patients with FD and a positive genetic diagnosis were studied and were divided into two groups: one included 24 patients with FD and LVH and another group included 39 patients with FD and without LVH. Papillary muscles were measured from the left parasternal short axis view, defining PMH as a diastolic thickness greater than 11 mm in any diameter.
RESULTS: Patients with FD and LVH had a high prevalence of anterolateral PMH (66.6%), and such prevalence was lower for the posteromedial PMH (33.3%). However, patients who had not yet developed LVH had a high prevalence of anterolateral PMH (33.3%).
CONCLUSIONS: Patients with FD in the pre-clinical stage (without LVH) have a high prevalence of PMH, especially involving the anterolateral papillary muscle. This finding could be an early marker for the development of LVH, allowing to suspect the disease during its early stages, and begin enzyme replacement therapy in the appropriate patients.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:23 |
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| Enthalten in: |
BMC cardiovascular disorders - 23(2023), 1 vom: 27. Aug., Seite 424 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Cianciulli, Tomás Francisco [VerfasserIn] |
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| Links: |
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| Themen: |
Fabry disease |
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| Anmerkungen: |
Date Completed 29.08.2023 Date Revised 21.11.2023 published: Electronic Citation Status MEDLINE |
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| doi: |
10.1186/s12872-023-03463-w |
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| funding: |
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| Förderinstitution / Projekttitel: |
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NLM361333439 |
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| 245 | 1 | 0 | |a Prevalence of papillary muscle hypertrophy in fabry disease |
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| 500 | |a Date Completed 29.08.2023 | ||
| 500 | |a Date Revised 21.11.2023 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2023. BioMed Central Ltd., part of Springer Nature. | ||
| 520 | |a BACKGROUND AND AIMS: Fabry disease (FD) is an X-linked genetic lysosomal disease, in which a deficit in the alpha-galactosidase A enzyme results in lysosomal build-up of globotriaosylceramide in several organs, causing cardiac, renal and cerebrovascular complications. The aim of this study was to assess the prevalence of papillary muscle hypertrophy (PMH) in patients with FD | ||
| 520 | |a METHODS: A group of 63 patients with FD and a positive genetic diagnosis were studied and were divided into two groups: one included 24 patients with FD and LVH and another group included 39 patients with FD and without LVH. Papillary muscles were measured from the left parasternal short axis view, defining PMH as a diastolic thickness greater than 11 mm in any diameter | ||
| 520 | |a RESULTS: Patients with FD and LVH had a high prevalence of anterolateral PMH (66.6%), and such prevalence was lower for the posteromedial PMH (33.3%). However, patients who had not yet developed LVH had a high prevalence of anterolateral PMH (33.3%) | ||
| 520 | |a CONCLUSIONS: Patients with FD in the pre-clinical stage (without LVH) have a high prevalence of PMH, especially involving the anterolateral papillary muscle. This finding could be an early marker for the development of LVH, allowing to suspect the disease during its early stages, and begin enzyme replacement therapy in the appropriate patients | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Fabry disease | |
| 650 | 4 | |a Left ventricular hypertrophy | |
| 650 | 4 | |a Papillary muscle hypertrophy | |
| 700 | 1 | |a Saccheri, María Cristina |e verfasserin |4 aut | |
| 700 | 1 | |a Llobera, Mariano Napoli |e verfasserin |4 aut | |
| 700 | 1 | |a Balletti, Lorena Romina |e verfasserin |4 aut | |
| 700 | 1 | |a Beck, Matín Alejandro |e verfasserin |4 aut | |
| 700 | 1 | |a Morita, Luis Alberto |e verfasserin |4 aut | |
| 700 | 1 | |a Lax, Jorge Alberto |e verfasserin |4 aut | |
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