Aslı Tanrıvermiş SAYİT, Muzaffer ELMALI, Dilek SAĞLAM

KONJENİTAL ATRANSFERRİNEMİ OLAN OLGUDA SOL VENTRİKÜLER NONKOMPAKTE KARDİYOMİYOPATİ

Konjenital atransferrinemi, transferrin yetersizliği ile karakterize, hipokromik mikrositer anemi ve hemosideroz ile sonuçlanan son derece nadir görülen otozomal resesif geçişli kalıtsal bir hastalıktır. Sol ventrikül nonkompaksiyonu nadirdir ve fetal gelişimin erken evrelerinde miyokardın normal kompaksiyon sürecinin durdurması ile karakterizedir. Biz burada, ilk defa dokuz aylıkken konjenital atransferrinemi tanısı alan beraberinde sol ventriküler non kompakte kardiyomyopatisi olan bir kız çocuğunu sunduk

Left Ventricular Noncompaction Cardiomyopathy In a Patient With Congenital Atransferrinemia

Congenital atransferrinemia is an extremely rare autosomal recessive inherited disorder characterized by a transferrin deficiency and results with hypochromic microcytic anemia and hemosiderosis. Left ventricular noncompaction is uncommon and results from the arrest of the myocardium’s normal compaction process in the early stages of fetal development. Here, we reported a congenital atransferrinemia who was first diagnosed at nine months with left ventricular noncompaction cardiomyopathy

Keywords:

Atransferrinemia, echocardiography iron, left ventricular noncompaction, magnetic resonance imaging,

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