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Primer sistemik karnitin eksikliğine bağlı dilate kardiyomiyopatili iki kardeş

Two female siblings with dilated cardiomyopathy due to primary systemic carnitine deficiency

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2008

Key Words:

Keywords (Original Language):

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Abstract (2. Language): 
Dilated cardiomyopathy is one of the leading causes of mortality and morbidity of cardiac origin in childhood. The etiology of pediatric cardiomyopathy remains undetermined in most cases. Some of dilated or hypertrophic cardiomyopathies with early onset may be due to primary systemic carnitine deficiency and give good response to replacement therapy. We herein report two female siblings, ten and two years old, who were diagnosed to have dilated cardiomyopathy due to primary systemic carnitine deficiency and whose cardiac functions completely recovered shortly after replacement therapy.
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Abstract (Original Language): 
Dilate kardiyomiyopati, çocukluk çağında kardiyak nedenli morbidite ve ölümün önde gelen nedenlerinden birisidir. Çocuk yaş grubunda kardiyomiyopatilerin önemli bir bölümünde neden bulunamamaktadır. Erken başlangıçlı dilate veya hipertrofik kardiyomiyopatilerin bir bölümü primer sistemik karnitin eksikliğinden kaynaklanmakta ve replasman tedavisine çok iyi yanıt vermektedir. Burada primer sistemik karnitin eksikliğine bağlı dilate kardiyomiyopati tanısı konulan, replasman tedavisi ile kardiyak fonksiyonları kısa sürede düzelen on ve iki yaşında iki kız kardeş sunulmaktadır.
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  • 3
209-212
  • Turkish

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