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Case Reports
. 2013 Jan-Feb;65(1):84-7.
doi: 10.1016/j.ihj.2012.12.012. Epub 2012 Dec 26.

Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: a rare case report

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Case Reports

Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: a rare case report

Dharmendra Jain et al. Indian Heart J. 2013 Jan-Feb.

Abstract

A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial angiofibroma, shagreen patch, subependymal nodules, and angiomyolipoma of kidney. The clinical manifestations, pathogenesis and evaluation of tuberous sclerosis are discussed.

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Figures

Fig. 1
Fig. 1
A: Adenoma sebaceum (facial angiofibromas), B: Shagreen patch: appear as leathery plaque in lumbosacral region, C: Chest X-ray PA view showing cardiomegaly.
Fig. 2
Fig. 2
A: 2D echo showing dilated cardiomyopathy and EF = 19%, B: MRI brain showing subependymal nodules, C: MRI abdomen showing angiomyolipoma of left kidney.

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References

    1. van Slegtenhorst M., de Hoogt R., Hermans C. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805–808. - PubMed
    1. The European Chromosome 16 Tuberous Sclerosis Consortium Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell. 1993;75:1305. - PubMed
    1. Au K.S., Rodriguez J.A., Finch J.L. Germline mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients. Am J Hum Genet. 1998;62:286–294. - PMC - PubMed
    1. Jones A.C., Daniells C.E., Snell R.G. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet. 1997;6:2155–2161. - PubMed
    1. Roach E.S., Gomez M.R., Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624–628. - PubMed

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