Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome

Pediatr Cardiol. Sep-Oct 2003;24(5):476-81. doi: 10.1007/s00246-002-0215-3.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Anemia, Megaloblastic / complications*
  • Anemia, Megaloblastic / drug therapy
  • Child
  • Heart Diseases / complications*
  • Heart Diseases / drug therapy
  • Humans
  • Male
  • Syndrome
  • Thiamine / therapeutic use*


  • Thiamine

Associated data

  • OMIM/249270