PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
 
J Med Genet. 1991 April; 28(4): 274–276.
PMCID: PMC1016832

Cardiac rhabdomyomata and megacystis-microcolon-intestinal hypoperistalsis syndrome.

Abstract

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.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (846K), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C. Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR Am J Roentgenol. 1976 May;126(5):957–964. [PubMed]
  • Vintzileos AM, Eisenfeld LI, Herson VC, Ingardia CJ, Feinstein SJ, Lodeiro JG. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Prenatal sonographic findings and review of the literature. Am J Perinatol. 1986 Oct;3(4):297–302. [PubMed]
  • Winter RM, Knowles SA. Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance. J Med Genet. 1986 Aug;23(4):360–362. [PMC free article] [PubMed]
  • Penman DG, Lilford RJ. The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition. J Med Genet. 1989 Jan;26(1):66–67. [PMC free article] [PubMed]
  • Smith HC, Watson GH, Patel RG, Super M. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. Arch Dis Child. 1989 Feb;64(2):196–200. [PMC free article] [PubMed]
  • Osborne JP. Diagnosis of tuberous sclerosis. Arch Dis Child. 1988 Dec;63(12):1423–1425. [PMC free article] [PubMed]
  • Krishnamurthy S, Schuffler MD. Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology. 1987 Sep;93(3):610–639. [PubMed]
  • Devroede G, Lemieux B, Massé S, Lamarche J, Herman PS. Colonic hamartomas in tuberous sclerosis. Gastroenterology. 1988 Jan;94(1):182–188. [PubMed]
  • Gibbs JL. The heart and tuberous sclerosis. An echocardiographic and electrocardiographic study. Br Heart J. 1985 Dec;54(6):596–599. [PMC free article] [PubMed]
  • Connor JM, Pirrit LA, Yates JR, Fryer AE, Ferguson-Smith MA. Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl. J Med Genet. 1987 Sep;24(9):544–546. [PMC free article] [PubMed]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group