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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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Related in: MedlinePlus

Previously reported 24 yrs. old male with history of WPW syndrome treated with radio frequency (RF) ablation 3 years ago, with progressive muscle weakness, mental retardation [7]. Late gadolinium enhancement images in short axis and 4 chamber orientation showed a subendocardial pattern of enhancement in the lateral wall, papillary muscle and RV inferior junction point. Perfusion deficits and late enhancement patterns were atypical for sarcomeric hypertrophic cardiomyopathy. The LGE pattern were similar to the patient in this case report. Based on CMR findings Danon disease was suspected. LAMP 2 protein deficiency was confirmed on immunofluorescence study of skeletal muscle which supported the diagnosis of Danon disease.
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Figure 7: Previously reported 24 yrs. old male with history of WPW syndrome treated with radio frequency (RF) ablation 3 years ago, with progressive muscle weakness, mental retardation [7]. Late gadolinium enhancement images in short axis and 4 chamber orientation showed a subendocardial pattern of enhancement in the lateral wall, papillary muscle and RV inferior junction point. Perfusion deficits and late enhancement patterns were atypical for sarcomeric hypertrophic cardiomyopathy. The LGE pattern were similar to the patient in this case report. Based on CMR findings Danon disease was suspected. LAMP 2 protein deficiency was confirmed on immunofluorescence study of skeletal muscle which supported the diagnosis of Danon disease.

Mentions: We present case of Danon disease confirmed by biopsy. As far as we know, this is the second description of CMR rest perfusion deficits and LGE in hypertrophic cardiomyopathy due to Danon disease [7]). In the case reported here, the LGE was mainly visible in the subendocardium and more extensively in the lateral segments in a distribution that would be unusual in more common pathologies [8]. Broadly similar LGE distribution and perfusion defects were seen in the previously described patient with preserved EF and only mild contractile dysfunction [7] (Figure 7). CMR examination with assessment of perfusion deficits and LGE can, in association with other investigations, be helpful in differential diagnosis of hypertrophic cardiomyopathy of unknown cause.


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)

Previously reported 24 yrs. old male with history of WPW syndrome treated with radio frequency (RF) ablation 3 years ago, with progressive muscle weakness, mental retardation [7]. Late gadolinium enhancement images in short axis and 4 chamber orientation showed a subendocardial pattern of enhancement in the lateral wall, papillary muscle and RV inferior junction point. Perfusion deficits and late enhancement patterns were atypical for sarcomeric hypertrophic cardiomyopathy. The LGE pattern were similar to the patient in this case report. Based on CMR findings Danon disease was suspected. LAMP 2 protein deficiency was confirmed on immunofluorescence study of skeletal muscle which supported the diagnosis of Danon disease.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 7: Previously reported 24 yrs. old male with history of WPW syndrome treated with radio frequency (RF) ablation 3 years ago, with progressive muscle weakness, mental retardation [7]. Late gadolinium enhancement images in short axis and 4 chamber orientation showed a subendocardial pattern of enhancement in the lateral wall, papillary muscle and RV inferior junction point. Perfusion deficits and late enhancement patterns were atypical for sarcomeric hypertrophic cardiomyopathy. The LGE pattern were similar to the patient in this case report. Based on CMR findings Danon disease was suspected. LAMP 2 protein deficiency was confirmed on immunofluorescence study of skeletal muscle which supported the diagnosis of Danon disease.
Mentions: We present case of Danon disease confirmed by biopsy. As far as we know, this is the second description of CMR rest perfusion deficits and LGE in hypertrophic cardiomyopathy due to Danon disease [7]). In the case reported here, the LGE was mainly visible in the subendocardium and more extensively in the lateral segments in a distribution that would be unusual in more common pathologies [8]. Broadly similar LGE distribution and perfusion defects were seen in the previously described patient with preserved EF and only mild contractile dysfunction [7] (Figure 7). CMR examination with assessment of perfusion deficits and LGE can, in association with other investigations, be helpful in differential diagnosis of hypertrophic cardiomyopathy of unknown cause.

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