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

Yıl 2020, Sayı: 1, 183 - 185, 01.03.2020

Aslı Tanrıvermiş Sayit Muzaffer Elmalı Dilek Sağlam

Öz

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

Anahtar Kelimeler

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

Kaynakça

Shamsian BS, Rezaei N, Arzanian MT, Alavi S, Khojasteh O, Eghbali A. Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. Pediatric hematology and oncology 2009; 26:356- 62. [CrossRef]
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]
Hamill RL, Woods JC, Cook BA. Congenital atransferrinemia. A case report and review of the literature. Am J Clin Pathol 1991; 96: 215-8. [CrossRef]
Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation 1990; 82: 507-13. [CrossRef]
Ichida F, Hamamichi Y, Miyawaki T, et al. Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol 1999; 34: 233–40. [CrossRef]
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]
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]
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]
Towbin JA. Inherited cardiomyopathies. Circ J 2014; 78: 2347-56. [CrossRef]
Lin YN, Wang YQ, Yu Y, Cao Q, Wang F, Chen SY. Left ventricular noncompaction cardiomyopathy: a case report and literature review. Int J Clin Exp Med 2014; 7: 5130-3.
Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001; 86: 666-71. [CrossRef]
Frischknecht BS1, Attenhofer Jost CH, Oechslin EN, et al. Validation of noncompaction criteria in dilated cardiomyopathy, and valvular and hypertensive heart disease. J Am Soc Echocardiogr 2005; 18: 865-72. [CrossRef]
Shemisa K, Li J, Tam M, Barcena J. Left ventricular noncompaction cardiomyopathy. Cardiovasc Diagn Ther 2013;3:170-5. [CrossRef]
Murphy RT, Thaman R, Blanes JG, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 2005;26:187-92. [CrossRef]