Prevalence of papillary muscle hypertrophy in fabry disease.

Autor: Cianciulli TF; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina. tcianciulli@gmail.com.; Researcher of the Ministry of Health, Government of the City of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina. tcianciulli@gmail.com., Saccheri MC; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina., Llobera MN; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina., Balletti LR; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina., Beck MA; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina., Morita LA; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina., Lax JA; Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires 'Dr. Cosme Argerich', Ciudad Autónoma de Buenos Aires, Argentina.
Jazyk: angličtina
Zdroj: BMC cardiovascular disorders [BMC Cardiovasc Disord] 2023 Aug 27; Vol. 23 (1), pp. 424. Date of Electronic Publication: 2023 Aug 27.
DOI: 10.1186/s12872-023-03463-w
Abstrakt: 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.
(© 2023. BioMed Central Ltd., part of Springer Nature.)
Databáze: MEDLINE
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