KONJENİTAL ATRANSFERRİNEMİ OLAN OLGUDA SOL VENTRİKÜLER NONKOMPAKTE KARDİYOMİYOPATİ

Number: 1 March 1, 2020
  • Aslı Tanrıvermiş Sayit
  • Muzaffer Elmalı
  • Dilek Sağlam
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KONJENİTAL ATRANSFERRİNEMİ OLAN OLGUDA SOL VENTRİKÜLER NONKOMPAKTE KARDİYOMİYOPATİ

Öz

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

Anahtar Kelimeler

References

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  2. Aslan D, Crain K, Beutler E. A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. Acta haematologica 2007; 118: 244-7. [CrossRef]
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  6. Vatta M, Mohapatra B, Jimenez S, et al. Mutations in Cypher/ ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. Journal of the American College of Cardiology 2003;42:2014-27. [CrossRef]
  7. Udeoji DU, Philip KJ, Morrissey RP, Phan A, Schwarz ER. Left ventricular noncompaction cardiomyopathy: updated review. Ther Adv Cardiovasc Dis 2013; 7: 260-73. [CrossRef]
  8. Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 2001; 103: 1256-63. [CrossRef]

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Aslı Tanrıvermiş Sayit

Muzaffer Elmalı

Dilek Sağlam

Publication Date

March 1, 2020

Submission Date

-

Acceptance Date

-

Published in Issue

Year 2020 Number: 1

IZ

https://izlik.org/JA88WD43KW

Cite

RIS / Bibtex
EndNote
Sayit AT, Elmalı M, Sağlam D (March 1, 2020) KONJENİTAL ATRANSFERRİNEMİ OLAN OLGUDA SOL VENTRİKÜLER NONKOMPAKTE KARDİYOMİYOPATİ. Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 1 183–185.