open access

Vol 66, No 3 (2008)
Other
Published online: 2008-03-21
Submitted: 2012-12-28
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Case reports
Morphological and clinical aspects of Danon disease

Anna Fidziańska, Ewa Walczak, Michał Walski, Edyta Wiśniewska, Teresa Wagner, Marek Kuch
Kardiol Pol 2008;66(3):302-306.

open access

Vol 66, No 3 (2008)
Other
Published online: 2008-03-21
Submitted: 2012-12-28

Abstract

Background: Danon disease, an X-linked hypertrophic cardiomyopathy, is caused by primary deficiency of lysosome-associated membrane protein (LAMP-2). The pathological hallmark of the disease is the appearance of intracytoplasmic vacuoles containing autophagic material and the absence of LAMP-2 activity in the muscle.
Aim: To define the LAMP-2 protein deficiency we investigated cardiac and skeletal muscle of a 19-year-old man with hypertrophic cardiomyopathy without clinically apparent skeletal myopathy or mental impairment, whose mother died suddenly at 46 years of age.
Methods: Clinical, morphological, immunohistochemical and ultrastructural analysis was performed. Paraffin sections of cardiac muscle were stained using routine histochemical methods. Frozen sections of skeletal muscle were stained using histochemical methods as well as using monoclonal antisera against N-terminal of dystrophin and antisera against LAMP-2. Ultrastructural examination of both cardiac and skeletal muscle specimens were performed.
Results: Cardiac and skeletal muscle revealed an excessive accumulation of early and late autophagic vacuoles containing various cytoplasmic debris. In immunohistochemical analysis the vacuolar membrane seen in skeletal muscle was decorated with antibody against dystrophin and such vacuoles were negative for LAMP-2.
Conclusion: Ultrastructural and immunohistochemical analysis of skeletal muscle (less invasive than myocardial biopsy) may be used in diagnosis of Danon disease. Early diagnosis of Danon disease is important for timely cardiac transplantation, the only effective therapeutic option

Abstract

Background: Danon disease, an X-linked hypertrophic cardiomyopathy, is caused by primary deficiency of lysosome-associated membrane protein (LAMP-2). The pathological hallmark of the disease is the appearance of intracytoplasmic vacuoles containing autophagic material and the absence of LAMP-2 activity in the muscle.
Aim: To define the LAMP-2 protein deficiency we investigated cardiac and skeletal muscle of a 19-year-old man with hypertrophic cardiomyopathy without clinically apparent skeletal myopathy or mental impairment, whose mother died suddenly at 46 years of age.
Methods: Clinical, morphological, immunohistochemical and ultrastructural analysis was performed. Paraffin sections of cardiac muscle were stained using routine histochemical methods. Frozen sections of skeletal muscle were stained using histochemical methods as well as using monoclonal antisera against N-terminal of dystrophin and antisera against LAMP-2. Ultrastructural examination of both cardiac and skeletal muscle specimens were performed.
Results: Cardiac and skeletal muscle revealed an excessive accumulation of early and late autophagic vacuoles containing various cytoplasmic debris. In immunohistochemical analysis the vacuolar membrane seen in skeletal muscle was decorated with antibody against dystrophin and such vacuoles were negative for LAMP-2.
Conclusion: Ultrastructural and immunohistochemical analysis of skeletal muscle (less invasive than myocardial biopsy) may be used in diagnosis of Danon disease. Early diagnosis of Danon disease is important for timely cardiac transplantation, the only effective therapeutic option
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Keywords

autophagic vacuoles; LAMP-2 deficiency; Danon disease

About this article
Title

Case reports
Morphological and clinical aspects of Danon disease

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Vol 66, No 3 (2008)

Pages

302-306

Published online

2008-03-21

Bibliographic record

Kardiol Pol 2008;66(3):302-306.

Keywords

autophagic vacuoles
LAMP-2 deficiency
Danon disease

Authors

Anna Fidziańska
Ewa Walczak
Michał Walski
Edyta Wiśniewska
Teresa Wagner
Marek Kuch

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