Journal of Nippon Medical School
Online ISSN : 1347-3409
Print ISSN : 1345-4676
ISSN-L : 1345-4676
Case Reports
Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)
Tae MatsumotoAtsushi WatanabeMakoto MigitaYoshihiro GochoJun HayakawaShun-ichi OgawaTakashi ShimadaYoshitaka Fukunaga
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2006 Volume 73 Issue 5 Pages 285-288

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Abstract

We report on an infant with Beals syndrome (congenital contractural arachnodactyly [CCA], MIM 121050) with transient cardiomyopathy showing ballon-like dilatation of the left ventricle that was similar to noncompaction. The patients father and two of his brothers were also found to have CCA without cardiovascular complications. CCA, which is caused by a mutation of the gene for fibrillin 2 protein is similar to Marfan syndrome (MIM 154700), which is caused by a mutation of fibrillin 1 but produces a life-threatening cardiovascular complications. This is the first report of CCA with transient cardiomyopathy. We discuss the mechanism of the spontaneous improvement of cardiomyopathy in this case on the basis of expression of the responsible gene.

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© 2006 by the Medical Association of Nippon Medical School
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