Güvenç Osman, Şengül Fatma Sevinç, Saygı Murat, Ergül Yakup, Güzeltaş Alper
Department of Pediatric Cardiology, Selçuk University Faculty of Medicine, Konya, Turkey.
Department of Pediatric Cardiology, Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.
Turk Kardiyol Dern Ars. 2014 Dec;42(8):767-70. doi: 10.5543/tkda.2014.55506.
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.
科斯特洛综合征是一种罕见的综合征，其特征为生长发育迟缓、身材矮小、精神运动发育迟缓、特征性面部容貌、巨头畸形、短颈、手掌和足底有深深褶皱的松弛柔软皮肤以及多毛症。几乎三分之二的患者会出现心脏受累情况，这是科斯特洛综合征预后的一个决定因素。最常见的心脏异常是肺动脉狭窄、肥厚型心肌病、房间隔缺损、室间隔缺损和心律失常。在本报告中，我们介绍了一名14个月大的患有肥厚型心肌病的女性儿科患者，该患者经临床和基因诊断为科斯特洛综合征。本报告还包含了对近期相关文献的综述。
