title: Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome).
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.
authors.affiliation: Department of Pediatrics, Nippon Medical School Graduate School of Medicine, Tokyo, Japan. tae@nms.ac.jp
authors.forename: Tae
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Atsushi
authors.initials: A
authors.lastname: Watanabe
authors.forename: Makoto
authors.initials: M
authors.lastname: Migita
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Gocho
authors.forename: Jun
authors.initials: J
authors.lastname: Hayakawa
authors.forename: Shun-ichi
authors.initials: S
authors.lastname: Ogawa
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimada
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Fukunaga
mesh_terms: D009202:Cardiomyopathies / Q000209:etiology*; D003286:Contracture / Q000150:complications / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics; D013577:Syndrome