title: [Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report].
abstract: Costello syndrome is a rare syndrome characterized by failure to thrive, short stature, mental motor retardation, characteristic facial features, macrocephaly, a short neck, loose soft skin with deep palmar and plantar creases, and hypertrichosis. Cardiac involvement is seen in almost two thirds of patients, and is a determinant for the prognosis of Costello syndrome. The most common cardiac anomalies are pulmonary stenosis, hypertrophic cardiomyopathy, atrial septal defect, ventricular septal defect and arrhytmia. In this report, we present a 14-month-old female pediatric patient with hypertrophic cardiomyopathy, clinically and genetically diagnosed with Costello syndrome. The report also contains a review of recent related literature.
authors.affiliation: Department of Pediatric Cardiology, Selçuk University Faculty of Medicine, Konya, Turkey. osmanguvenc1977@gmail.com.
authors.forename: Osman
authors.initials: O
authors.lastname: Güvenç
authors.affiliation: Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.
authors.forename: Fatma Sevinç
authors.initials: FS
authors.lastname: Şengül
authors.affiliation: Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Saygı
authors.affiliation: Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.
authors.forename: Yakup
authors.initials: Y
authors.lastname: Ergül
authors.affiliation: Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.
authors.forename: Alper
authors.initials: A
authors.lastname: Güzeltaş
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging; D056685:Costello Syndrome / Q000150:complications / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D014463:Ultrasonography