Hypertrophic cardiomyopathy and Costello syndrome: Review of recent related literature with case report Hipertrofik kardiyomiyopati ve Costello sendromu: Olgu sunumu eşliʇinde literatürün gözden geçirilmesi
Turk Kardiyoloji Dernegi Arsivi, cilt.42, sa.8, ss.767-770, 2014 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 42 Sayı: 8
- Basım Tarihi: 2014
- Doi Numarası: 10.5543/tkda.2014.55506
- Dergi Adı: Turk Kardiyoloji Dernegi Arsivi
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.767-770
- Anahtar Kelimeler: Costello syndrome, child, hypertrophic cardiomyopathy
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.