TY - JOUR
T1 - Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome
AU - Lorber, A.
AU - Gazit, A. Z.
AU - Khoury, A.
AU - Schwartz, Y.
AU - Mandel, H.
PY - 2003/9
Y1 - 2003/9
N2 - 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.
AB - 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.
KW - Ebstein's anomaly
KW - Supraventricular tachycardia
KW - Thiamine-responsive megaloblastic anemia
UR - http://www.scopus.com/inward/record.url?scp=0042522661&partnerID=8YFLogxK
U2 - 10.1007/s00246-002-0215-3
DO - 10.1007/s00246-002-0215-3
M3 - Article
C2 - 14627317
AN - SCOPUS:0042522661
SN - 0172-0643
VL - 24
SP - 476
EP - 481
JO - Pediatric Cardiology
JF - Pediatric Cardiology
IS - 5
ER -