Life-threatening cardiac involvement throughout life in a case of Costello syndrome

Clinical Genetics
T FukaoN Kondo

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.

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Citations

Feb 28, 2003·American Journal of Medical Genetics. Part a·Hiroshi KawameYoshimitsu Fukushima
Sep 5, 2002·American Journal of Medical Genetics·Angela E LinLinda Nicholson
Aug 30, 2007·European Journal of Pediatrics·M Cristina DigilioBruno Dallapiccola
Apr 23, 2016·American Journal of Medical Genetics. Part a·Natalia Gomez-OspinaLouanne Hudgins
Feb 1, 2003·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Raoul C M Hennekam
Nov 11, 2003·American Journal of Medical Genetics. Part a·Marie-Ange DelrueDidier Lacombe

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