Hipertrofik kardiyomiyopati ve Costello sendromu: Olgu sunumu eşliğinde literatürün gözden geçirilmesi
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Date
2014
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info:eu-repo/semantics/openAccess
Abstract
Costello sendromu büyüme gelişme geriliği, mental motor gerilik, tipik yüz görünümü, makrosefali, kısa boyun, el ve ayak çizgilerinde belirginleşme, yumuşak ve gevşek deri ile birlikte kıllanma artışı gibi bulgularla karşımıza çıkan, nadir görülen bir sendromdur. Hastaların yaklaşık üçte ikisinde kalp tutulumu olduğu ve bunun prognozu belirlediği bildirilmektedir. En sık görülen kalp bozuklukları pulmoner kapak darlığı, hipertrofik kardiyomiyopati, atriyal ve ventriküler septal defekt ile aritmilerdir. Bu olgu sunumunda, hipertrofik kardiyomiyopatisi olan, klinik ve genetik olarak Costello sendromu olduğu gösterilen 14 aylık kız hasta, son literatür bilgileriyle birlikte sunuldu.
Costello syndrome is a rare syndrome charac- terized by failure to thrive, short stature, mental motor retar- dation, 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.
Costello syndrome is a rare syndrome charac- terized by failure to thrive, short stature, mental motor retar- dation, 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.
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Kalp ve Kalp Damar Sistemi
Journal or Series
Türk Kardiyoloji Derneği Arşivi
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Volume
42
Issue
8
