Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report

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...

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Bibliographic Details
Main Authors: Osman Güvenç (Author), Fatma Sevinç Şengül (Author), Murat Saygı (Author), Yakup Ergül (Author), Alper Güzeltaş (Author)
Format: Book
Published: KARE Publishing, 2014-12-01T00:00:00Z.
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Summary: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.
Item Description:1016-5169
10.5543/tkda.2014.55506