Prevalence of papillary muscle hypertrophy in fabry disease

BMC Cardiovascular Disorders

Research

María Cristina Saccheri¹  Luis Alberto Morita¹  Mariano Napoli Llobera¹  Jorge Alberto Lax¹  Matín Alejandro Beck¹  Lorena Romina Balletti¹  Tomás Francisco Cianciulli² 

[1]Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires “Dr. Cosme Argerich”, Ciudad Autónoma de Buenos Aires, Argentina

[2]Division of Cardiology, Echocardiography Laboratory, Hospital of the Government of the City of Buenos Aires “Dr. Cosme Argerich”, Ciudad Autónoma de Buenos Aires, Argentina

[3]Researcher of the Ministry of Health, Government of the City of Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina

关键词: Fabry disease;    Left ventricular hypertrophy;    Papillary muscle hypertrophy;   

DOI  :  10.1186/s12872-023-03463-w

 received in 2023-03-26, accepted in 2023-08-21,  发布年份 2023

来源: Springer

【 摘 要 】

Background and aimsFabry 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.MethodsA 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.ResultsPatients 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%).ConclusionsPatients 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.

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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