Journal of Nippon Medical School = Nippon Ika Daigaku zasshi · 2006
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome).
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Matsumoto Tae, Watanabe Atsushi, Migita Makoto, Gocho Yoshihiro, Hayakawa Jun, Ogawa Shun-ichi, Shimada Takashi, Fukunaga Yoshitaka
Аннотация
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.