RIGHT VENTRICULAR DYSFUNCTION IN THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME: A CASE REPORT

Abstract

Thiamine or Vitamin B1 is an essential cofactor for many metabolic processes in numerous tissues.<br />Thiamine-Responsive Megaloblastic Anemia Syndrome is a genetic disorder affecting thiamine transportation with consequent bone marrow, pancreatic, neurological, and cardiac functional and developmental anomalies. There are limited reports of the cardiac manifestations of this syndrome.<br />Here, we present a case of this syndrome in a male patient with right ventricular dysfunction and atrial dysrhythmias.