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

• Main Authors: Osman Güvenç, Fatma Sevinç Şengül, Murat Saygı, Yakup Ergül, Alper Güzeltaş
• Format: Article
• Language: English
• Published: KARE Publishing 2014-12-01
• Series: Türk Kardiyoloji Derneği Arşivi
• Subjects: costello syndrome; child; hypertrophic cardiomyopathy.
• Online Access: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tkd&un=TKDA-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.