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

2020 ◽  
Vol 7 (5) ◽  
pp. 2534-2543
Author(s):  
Jiri Gurka ◽  
Lenka Piherova ◽  
Filip Majer ◽  
Anna Chaloupka ◽  
Daniela Zakova ◽  
...  
Keyword(s):  
Heart Failure ◽  
Young Female ◽  
Advanced Heart Failure ◽  
Danon Disease ◽  
Female Patients ◽  
Flow Cytometric ◽  
Flow Cytometric Study

scholarly journals Clinical Profile of Cardiac Involvement in Danon Disease

2020 ◽  
Vol 13 (6) ◽  
Author(s):  
Dor Lotan ◽  
Joel Salazar-Mendiguchía ◽  
Jens Mogensen ◽  
Faizan Rathore ◽  
Aris Anastasakis ◽  
...  
Keyword(s):  
Heart Failure ◽  
Ejection Fraction ◽  
Cardiac Involvement ◽  
Phenotypic Diversity ◽  
Systolic Dysfunction ◽  
Left Ventricular ◽  
Cardiac Complications ◽  
Danon Disease ◽  
Female Patients ◽  
Lv Ejection Fraction

Background: The X-linked Danon disease manifests by severe cardiomyopathy, myopathy, and neuropsychiatric problems. We designed this registry to generate a comprehensive picture of clinical presentations and outcome of patients with Danon disease in cardiomyopathy centers throughout Europe. Methods: Clinical and genetic data were collected in 16 cardiology centers from 8 European countries. Results: The cohort comprised 30 male and 27 female patients. The age at diagnosis was birth to 42 years in men and 2 to 65 in women. Cardiac involvement was observed in 96%. Extracardiac manifestations were prominent in men but not in women. Left ventricular (LV) hypertrophy was reported in 73% of male and 74% of female patients. LV systolic dysfunction was reported in 40% of men (who had LV ejection fraction, 34±11%) and 59% of women (LV ejection fraction, 28±13%). The risk of arrhythmia and heart failure was comparable among sexes. The age of first heart failure hospitalization was lower in men (18±6 versus 28±17 years; P <0.003). Heart failure was the leading cause of death (10 of 17; 59%), and LV systolic dysfunction predicted an adverse outcome. Eight men and 8 women (28%) underwent heart transplantation or received an LV assist device. Our cohort suggests better prognosis of female compared with male heart transplant recipients. Conclusions: Danon disease presents earlier in men than in women and runs a malignant course in both sexes, due to cardiac complications. Cardiomyopathy features, heart failure and arrhythmia, are similar among the sexes. Clinical diagnosis and management is extremely challenging in women due to phenotypic diversity and the absence of extracardiac manifestations.

Myostatin signaling is up-regulated in female patients with advanced heart failure

2017 ◽  
Vol 238 ◽  
pp. 37-42 ◽  
Author(s):  
Junichi Ishida ◽  
Masaaki Konishi ◽  
Masakazu Saitoh ◽  
Markus Anker ◽  
Stefan D. Anker ◽  
...  
Keyword(s):  
Heart Failure ◽  
Advanced Heart Failure ◽  
Female Patients

scholarly journals Fulminant Danon Disease in a Young Female Patient with a Novel LAMP2 Mutation

2021 ◽  
Vol 8 (2) ◽  
pp. 1-4
Author(s):  
Eric Adler ◽  
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Missense Mutation ◽  
Female Patient ◽  
Cardiac Mri ◽  
Disease Diagnosis ◽  
Young Female ◽  
Mri Findings ◽  
Danon Disease ◽  
Protein Staining

A 14-year-old female presented for congestive heart failure with biventricular hypertrophy and severely depressed LVEF. Cardiac MRI findings of extensive LGE but sparing the mid septum, genetic tests reporting a LAMP2 missense mutation and LAMP2 protein staining in the minority of cardiac myocytesat immunohistochemistry suggested a Danon Disease diagnosis.

546 Clinical and neurohormonal correlates of circulating soluble apoptosis markers in decompensated advanced heart failure

2003 ◽  
Vol 2 (1) ◽  
pp. 115-116
Author(s):  
J PARISSIS ◽  
S ADAMOPOULOS ◽  
K VENETSANOU ◽  
D MENTZIKOF ◽  
K KIRANAKOS ◽  
...  
Keyword(s):  
Heart Failure ◽  
Advanced Heart Failure ◽  
Apoptosis Markers

640 Glucose metabolism in patients with advanced heart failure

2006 ◽  
Vol 5 (1) ◽  
pp. 149-149
Author(s):  
P MONTEIRO ◽  
J JONES ◽  
F FRANCO ◽  
C BAROSA ◽  
S COSTA ◽  
...  
Keyword(s):  
Heart Failure ◽  
Glucose Metabolism ◽  
Advanced Heart Failure

778 Factors affecting the outcome in advanced heart failure

2003 ◽  
Vol 2 (1) ◽  
pp. 169
Author(s):  
E BEIEVGENIA ◽  
G KARATASAKISGEORGE ◽  
C SPARGIASCONSTANTINOS ◽  
G KOURGIANNIDESGEORGE ◽  
N KOUTSOGIANNISNIKOLAOS ◽  
...  
Keyword(s):  
Heart Failure ◽  
Advanced Heart Failure ◽  
Factors Affecting
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