| Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome. | |
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MedLine Citation:
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PMID: 1856835 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Multiple cardiac rhabdomyomata were discovered on necropsy tissue review of a previously well child with megacystis-microcolon-intestinal hypoperistalsis syndrome, who died unexpectedly at home at 40 months of age. Multiple cardiac rhabdomyomata occur rarely and have not previously been reported with this syndrome. They are most frequently associated with tuberous sclerosis. The finding of multiple cardiac rhabdomyomata in this patient suggests the possibility that these two rare conditions may be associated. Putative gene loci for tuberous sclerosis have been assigned to the long arms of chromosomes 9 and 11 and it is possible that the cardiac rhabdomyomata seen in this patient are a serendipitous indicator of the location of the megacystis-microcolon-intestinal hypoperistalsis gene. |
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Authors:
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R T Couper; R W Byard; E Cutz; D A Stringer; P R Durie |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 28 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1991 Apr |
Date Detail:
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Created Date: 1991-08-28 Completed Date: 1991-08-28 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 274-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Hospital for Sick Children, University of Toronto, Ontario, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Mapping Chromosomes, Human, Pair 11 / ultrastructure* Chromosomes, Human, Pair 9 / ultrastructure* Colon / abnormalities* Female Heart Neoplasms / complications, genetics*, pathology Humans Infant Rhabdomyoma / complications, genetics*, pathology Syndrome Tuberous Sclerosis / complications, genetics, pathology |
| Comments/Corrections | |
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