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Pediatric Cardiology

Erschienen in:

01.09.2003 | Original Article

Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome

verfasst von: A. Lorber, A. Z. Gazit, A. Khoury, Y. Schwartz, H. Mandel

Erschienen in: Pediatric Cardiology | Ausgabe 5/2003

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Abstract

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.

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Titel: Cardiac Manifestations in Thiamine-Responsive Megaloblastic Anemia Syndrome
verfasst von: A. Lorber
A. Z. Gazit
A. Khoury
Y. Schwartz
H. Mandel
Publikationsdatum: 01.09.2003
Verlag: Springer-Verlag
Erschienen in: Pediatric Cardiology / Ausgabe 5/2003
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI: https://doi.org/10.1007/s00246-002-0215-3

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