KONJENİTAL ATRANSFERRİNEMİ OLAN OLGUDA SOL VENTRİKÜLER NONKOMPAKTE KARDİYOMİYOPATİ

Aslı Tanrıvermiş Sayit; Muzaffer Elmalı; Dilek Sağlam

Left Ventricular Noncompaction Cardiomyopathy In a Patient With Congenital Atransferrinemia

Year 2020, Issue: 1, 183 - 185, 01.03.2020

Aslı Tanrıvermiş Sayit Muzaffer Elmalı Dilek Sağlam

Abstract

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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