Life-threatening cardiac involvement throughout life in a case of Costello syndrome
| Autor: | Toshiyuki Fukao, Naomi Kondo, Hiroshi Ichihashi, Nobuyuki Shimozawa, Mitsuo Masuno, Mayumi Katagiri-Kawade, Tadao Orii, Emiko Goto, Takashi Kuwahara, Shinji Sakai, Yoshihiro Nakashima, Masatsugu Kano |
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| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Pediatrics Heart disease Nose Neoplasms Cardiomyopathy Nose neoplasm Costello syndrome Intellectual Disability Internal medicine Atrial Fibrillation Intellectual disability Genetics medicine Humans Growth Disorders Genetics (clinical) Papilloma business.industry Coarse face Infant Newborn Hypertrophic cardiomyopathy Atrial fibrillation Syndrome Cardiomyopathy Hypertrophic Anus Neoplasms medicine.disease Endocrinology cardiovascular system Female business |
| Zdroj: | Clinical Genetics. 50:244-247 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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