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- Thiamine-responsive megaloblastic anaemia syndrome
- right ventricular dysfunction
- systolic dysfunction
- ventricular tachycardia
- congenital heart disease
- fallots tetralogy
- coronary artery disease
- risk stratification
A 20-year-old high school student was referred to our hospital with a diagnosis of Ebstein anomaly. He was the first child of consanguineous parents of Arab descent and was deaf and mute since he was 12 months old. At 18 months, he had been evaluated because of his pallor and increasing weakness, by which megaloblatic anaemia was noted. Considering bilateral sensorineural deafness, megaloblastic anaemia and mild hyperglycaemia, he was diagnosed as having thiamine-responsive megaloblastic anaemia (TRMA) syndrome. He has been receiving thiamine and folic acid since 18 months of age. There had been no overt diabetes mellitus requiring insulin and hyperglycaemia was controlled by dietary changes. Recent genetic studies by his haematologist confirmed the diagnosis. He mentioned the onset of diabetes in his father at the age of 30 years but reported no other family history of similar problems. He had a history of blood transfusions for haemoglobin concentrations as low as 4.5 g/dl. There was also an unclear history of syncope 4 years ago.
General physical examination showed no failure to thrive. There was pale conjunctiva and a horizontal …
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