Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome

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 wit...

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Bibliographic Details
Published in:Journal of medical genetics 1991-04, Vol.28 (4), p.274-276
Main Authors: Couper, R T, Byard, R W, Cutz, E, Stringer, D A, Durie, P R
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 11 - ultrastructure
Chromosomes, Human, Pair 9 - ultrastructure
Colon - abnormalities
Female
Gastroenterology. Liver. Pancreas. Abdomen
Heart Neoplasms - complications
Heart Neoplasms - genetics
Heart Neoplasms - pathology
Humans
Infant
Medical sciences
Rhabdomyoma - complications
Rhabdomyoma - genetics
Rhabdomyoma - pathology
Syndrome
Tuberous Sclerosis - complications
Tuberous Sclerosis - genetics
Tuberous Sclerosis - pathology
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.28.4.274