Abstract
Lysosome-associated membrane protein (LAMP2) cardiomyopathy is an X-linked and highly progressive myocardial storage disorder associated with diminished survival, which clinically resembles sarcomeric hypertrophic cardiomyopathy. As shown here in a young woman, the natural history of LAMP2 may demonstrate an extreme profile of left ventricular remodeling with regression of hypertrophy (i.e. marked wall thinning), chamber dilatation, and severe systolic dysfunction, all of which are associated with widespread transmural scarring.
Copyright © 2010. Published by Elsevier Inc.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Cardiomyopathy, Hypertrophic, Familial / genetics
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Cardiomyopathy, Hypertrophic, Familial / physiopathology*
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Cardiomyopathy, Hypertrophic, Familial / surgery
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DNA / genetics*
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Echocardiography, Doppler
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Electrocardiography
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Female
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Follow-Up Studies
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Heart Transplantation
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Humans
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Lysosomal Membrane Proteins / genetics*
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Lysosomal Membrane Proteins / metabolism
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Lysosomal-Associated Membrane Protein 2
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Mutation*
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Ventricular Remodeling / genetics*
Substances
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LAMP2 protein, human
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Lysosomal-Associated Membrane Protein 2
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Lysosomal Membrane Proteins
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DNA