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Cardiovascular magnetic resonance findings in a case of Danon disease.

Piotrowska-Kownacka D, Kownacki L, Kuch M, Walczak E, Kosieradzka A, Fidzianska A, Krolicki L - J Cardiovasc Magn Reson (2009)

Bottom Line: Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure.We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies.

View Article: PubMed Central - HTML - PubMed

Affiliation: II Department of Radiology, Medical University of Warsaw, Warsaw, Poland. dpiotrowska@tlen.pl

ABSTRACT
Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies.

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Electron microscopic analysis of cardiomyocytes. AVd limited by single membrane containing degraded material. × 20000
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Figure 6: Electron microscopic analysis of cardiomyocytes. AVd limited by single membrane containing degraded material. × 20000

Mentions: A diagnosis of Danon disease was confirmed by biopsy results. Skeletal muscle and endomyocardial biopsy from the right ventricle (RV) and the septum were taken. Electron microscopic analysis showed accumulation of autophagic vacuoles in affected cardiomyocytes. They were located within intrafibrillar spaces as well as in the perinuclear region (Figure 4). Many of these structures resembled early autophagic vacuoles (AVi) containing morphologically intact sarcoplasmatic contents (Figure 5) and double limiting membrane. A significant increase in the number of late autophagic vacuoles (AVd) limited by a single membrane and containing partially degraded sarcoplasm (Figure 6) suggests that their maturation is partially retarded. LAMP-2 protein deficiency which was detected by immunofluorescence study in striated muscle of the patient supported the diagnosis of Danon disease. The patient was treated for heart failure and placed on the heart transplantation list, but he died two weeks later.


Cardiovascular magnetic resonance findings in a case of Danon disease.

Piotrowska-Kownacka D, Kownacki L, Kuch M, Walczak E, Kosieradzka A, Fidzianska A, Krolicki L - J Cardiovasc Magn Reson (2009)

Electron microscopic analysis of cardiomyocytes. AVd limited by single membrane containing degraded material. × 20000
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2683831&req=5

Figure 6: Electron microscopic analysis of cardiomyocytes. AVd limited by single membrane containing degraded material. × 20000
Mentions: A diagnosis of Danon disease was confirmed by biopsy results. Skeletal muscle and endomyocardial biopsy from the right ventricle (RV) and the septum were taken. Electron microscopic analysis showed accumulation of autophagic vacuoles in affected cardiomyocytes. They were located within intrafibrillar spaces as well as in the perinuclear region (Figure 4). Many of these structures resembled early autophagic vacuoles (AVi) containing morphologically intact sarcoplasmatic contents (Figure 5) and double limiting membrane. A significant increase in the number of late autophagic vacuoles (AVd) limited by a single membrane and containing partially degraded sarcoplasm (Figure 6) suggests that their maturation is partially retarded. LAMP-2 protein deficiency which was detected by immunofluorescence study in striated muscle of the patient supported the diagnosis of Danon disease. The patient was treated for heart failure and placed on the heart transplantation list, but he died two weeks later.

Bottom Line: Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure.We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies.

View Article: PubMed Central - HTML - PubMed

Affiliation: II Department of Radiology, Medical University of Warsaw, Warsaw, Poland. dpiotrowska@tlen.pl

ABSTRACT
Danon disease is a rare X-linked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. We report a case of Danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including late gadolinium enhancement and perfusion studies.

Show MeSH
Related in: MedlinePlus