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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2006-4-3
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pubmed:abstractText |
A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
0008-6312
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2006 S. Karger AG, Basel.
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pubmed:issnType |
Print
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pubmed:volume |
105
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
142-5
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:16449811-Bundle-Branch Block,
pubmed-meshheading:16449811-Cardiomyopathy, Dilated,
pubmed-meshheading:16449811-Charcot-Marie-Tooth Disease,
pubmed-meshheading:16449811-Chromosomes, Human, Pair 17,
pubmed-meshheading:16449811-Female,
pubmed-meshheading:16449811-Gene Duplication,
pubmed-meshheading:16449811-Genetic Predisposition to Disease,
pubmed-meshheading:16449811-Heart Failure,
pubmed-meshheading:16449811-Heart Rate,
pubmed-meshheading:16449811-Humans,
pubmed-meshheading:16449811-Hypertrophy, Left Ventricular,
pubmed-meshheading:16449811-Middle Aged,
pubmed-meshheading:16449811-Myelin Proteins,
pubmed-meshheading:16449811-Stroke Volume
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pubmed:year |
2006
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pubmed:articleTitle |
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A.
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pubmed:affiliation |
Unita Operativa di Cardiologia, Ospedale Valduce, Como, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
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