Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

Abstract Aims Danon disease (DD) is a rare X‐linked disorder caused by mutations in the lysosomal‐associated membrane protein type 2 gene (LAMP2). DD is difficult to distinguish from other causes of dilated or hypertrophic cardiomyopathy (HCM) in female patients. As DD female patients regularly prog...

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Bibliographic Details
Main Authors: Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova, Ondrej Pelak, Alice Krebsova, Petr Peichl, Jan Krejci, Tomas Freiberger, Vojtech Melenovsky, Josef Kautzner, Tomas Kalina, Jakub Sikora, Milos Kubanek
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:ESC Heart Failure
Subjects:
Advanced heart failure
Danon disease
Lysosomal‐associated membrane protein type 2
Screening
White blood cells
Online Access:https://doi.org/10.1002/ehf2.12823

Internet

https://doi.org/10.1002/ehf2.12823

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