title: Life-threatening cardiac involvement throughout life in a case of Costello syndrome.
abstract: Costello syndrome is characterized by poor postnatal growth, mental retardation, curly hair, coarse face, loose skin of the hands and feet, and nasal papillomata. Patients with Costello syndrome have a high incidence of cardiac involvement, such as arrhythmias, hypertrophic cardiomyopathy, or congenital anomalies. The importance of cardiac involvement in Costello syndrome has not been strongly emphasized thus far, although arrhythmia and hypertrophic cardiomyopathy are both serious forms of cardiac involvement. We report the case of a Japanese girl with Costello syndrome, who experienced life-threatening cardiac involvement throughout her life.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan. toshi-gif@umin.u-tokyo.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: S
authors.initials: S
authors.lastname: Sakai
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: T
authors.initials: T
authors.lastname: Kuwahara
authors.forename: M
authors.initials: M
authors.lastname: Kano
authors.forename: E
authors.initials: E
authors.lastname: Goto
authors.forename: Y
authors.initials: Y
authors.lastname: Nakashima
authors.forename: M
authors.initials: M
authors.lastname: Katagiri-Kawade
authors.forename: H
authors.initials: H
authors.lastname: Ichihashi
authors.forename: M
authors.initials: M
authors.lastname: Masuno
authors.forename: T
authors.initials: T
authors.lastname: Orii
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D001005:Anus Neoplasms; D001281:Atrial Fibrillation; D002312:Cardiomyopathy, Hypertrophic / Q000151:congenital*; D005260:Female; D006130:Growth Disorders; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D009669:Nose Neoplasms; D010212:Papilloma; D013577:Syndrome