Pediatric Cardiology

, Volume 24, Issue 5, pp 476–481

Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome

  • A. Lorber
  • A. Z. Gazit
  • A. Khoury
  • Y. Schwartz
  • H. Mandel
Original Article


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.


Thiamine-responsive megaloblastic anemia Ebstein’s anomaly Supraventricular tachycardia 


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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • A. Lorber
    • 1
    • 2
  • A. Z. Gazit
    • 2
    • 3
  • A. Khoury
    • 1
    • 2
  • Y. Schwartz
    • 1
    • 2
  • H. Mandel
    • 2
    • 4
  1. 1.Department of Pediatric CardiologyRambam Medical Center, P.O. Box 9602, Haifa 31096Israel
  2. 2.Bruce Rappaport Faculty of MedicineTechnion-Israel Institute of Technology, P.O. Box 9649, Haifa 31096Israel
  3. 3.Department of PediatricsBnai-zion Medical Center, P.O. Box 4940, Haifa 31048Israel
  4. 4.Metabolic Unit and Department of PediatricsRambam Medical Center, P.O. Box 9602, Haifa 31096Israel

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