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@article{1685078,
author = {Gurka, Jiri and Piherova, Lenka and Majer, Filip and Chaloupka, Anna and Žáková, Daniela and Pelak, Ondrej and Krebsova, Alice and Peichl, Petr and Krejčí, Jan and Freiberger, Tomáš and Melenovsky, Vojtech and Kautzner, Josef and Kalina, Tomas and Sikora, Jakub and Kubanek, Milos},
article_location = {San Francisco},
article_number = {5},
doi = {http://dx.doi.org/10.1002/ehf2.12823},
keywords = {Advanced heart failure; Danon disease; Lysosomal-associated membrane protein type 2; Screening; White blood cells},
language = {eng},
issn = {2055-5822},
journal = {ESC Heart Failure},
title = {Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study},
url = {https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ehf2.12823},
volume = {7},
year = {2020}
}
TY - JOUR
ID - 1685078
AU - Gurka, Jiri - Piherova, Lenka - Majer, Filip - Chaloupka, Anna - Žáková, Daniela - Pelak, Ondrej - Krebsova, Alice - Peichl, Petr - Krejčí, Jan - Freiberger, Tomáš - Melenovsky, Vojtech - Kautzner, Josef - Kalina, Tomas - Sikora, Jakub - Kubanek, Milos
PY - 2020
TI - Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study
JF - ESC Heart Failure
VL - 7
IS - 5
SP - 2534-2543
EP - 2534-2543
PB - Wiley Periodicals
SN - 20555822
KW - Advanced heart failure
KW - Danon disease
KW - Lysosomal-associated membrane protein type 2
KW - Screening
KW - White blood cells
UR - https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ehf2.12823
L2 - https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ehf2.12823
N2 - 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 progress into advanced heart failure (AHF) aged 20-40 years, their early identification is critical to improve patient survival and facilitate genetic counselling. In this study, we evaluated the prevalence of DD among female patients with non-ischemic cardiomyopathy, who reached AHF and were younger than 40 years. Methods and results The study cohort comprised 60 female patients: 47 (78%) heart transplant recipients, 2 (3%) patients treated with ventricular assist device, and 11 (18%) patients undergoing pre-transplant assessment. Aetiology of the cardiomyopathy was known in 15 patients (including two DD patients). LAMP2 expression in peripheral white blood cells (WBC) was tested by flow cytometry (FC) in the remaining 45 female patients. Whole exome sequencing was used as an alternative independent testing method to FC. Five additional female DD patients (two with different novelLAMP2mutations) were identified by FC. The total prevalence of DD in this cohort was 12%. HCM phenotype (57% vs. 9%,*P = 0.022) and delta waves identified by electrocardiography (43% vs. 0%,*P = 0.002) were significantly more frequent in DD female patients. Conclusions Danon disease is an underdiagnosed cause of AHF in young female patients. LAMP2 expression testing in peripheral WBCs by FC can be used as an effective screening/diagnostic tool to identify DD in this patient population.
ER -
GURKA, Jiri, Lenka PIHEROVA, Filip MAJER, Anna CHALOUPKA, Daniela ŽÁKOVÁ, Ondrej PELAK, Alice KREBSOVA, Petr PEICHL, Jan KREJČÍ, Tomáš FREIBERGER, Vojtech MELENOVSKY, Josef KAUTZNER, Tomas KALINA, Jakub SIKORA a Milos KUBANEK. Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study. \textit{ESC Heart Failure}. San Francisco: Wiley Periodicals, roč.~7, č.~5, s.~2534-2543. ISSN~2055-5822. doi:10.1002/ehf2.12823. 2020.
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