-Case Reports-

Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)

Tae Matsumoto¹, Atsushi Watanabe², Makoto Migita^1,2, Yoshihiro Gocho¹, Jun Hayakawa¹, Shun-ichi Ogawa¹, Takashi Shimada^1,2 and Yoshitaka Fukunaga¹

¹Department of Pediatrics, Nippon Medical School Graduate School of Medicine
²Division of Clinical Genetics, Nippon Medical School Hospital

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 patient's 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.

J Nippon Med Sch 2006; 73: 285-288

Keywords
Beals syndrome (congenital contractural arachnodactyly; CCA), cardiomyopathy, noncompaction

Correspondence to
Tae Matsumoto, MD, Department of Pediatrics, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo 113-8603, Japan
tae@nms.ac.jp

Received, May 19, 2006
Accepted, August 10, 2006