Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome

A. Lorber, A. Z. Gazit, A. Khoury, Y. Schwartz, H. Mandel

Research output: Contribution to journalArticlepeer-review

42 Scopus citations


Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare autosomal recessive disorder defined by the occurrence of megaloblastic anemia, diabetes mellitus, and sensorineural deafness, responding in varying degrees to thiamine treatment. Other features of this syndrome gradually develop. We describe three TRMA patients with heart rhythm abnormalities and structural cardiac anomalies. Eight other reported TRMA patients also had cardiac anomalies. Recently, the TRMA gene, SLC19A2, was identified, encoding a functional thiamine transporter. Characterization of the metabolic defect of TRMA may shed light on the role of thiamine in common cardiac abnormalities.

Original languageEnglish
Pages (from-to)476-481
Number of pages6
JournalPediatric Cardiology
Issue number5
StatePublished - Sep 2003


  • Ebstein's anomaly
  • Supraventricular tachycardia
  • Thiamine-responsive megaloblastic anemia


Dive into the research topics of 'Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome'. Together they form a unique fingerprint.

Cite this