Mustafa ARGUN, Ali BAYKAN, Nihal HATİPOĞLU, Leyla AKIN, Yavuz ŞAHİN, Nazmi NARİN, Selim KURTOĞLU

Arrhythmia in thiamine responsive megaloblastic anemia syndrome

Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare,autosomal recessive disorder characterized by megaloblastic anemia, diabetesmellitus, and progressive sensorineural deafness. Mutations in the SLC19A2gene that codes for thiamine transporter 1 protein cause TRMAS, and morethan 30 homozygous mutations have been identified to date. Congenital heartdiseases and arrhythmias have been reported in few patients. We presentcardiac features of five patients with TRMAS. Five patients had macrocyticanemia, diabetes mellitus, and sensorineural deafness. Two siblings hadalso optic atrophy. SLC19A2 gene mutation was shown in all patients. Twopatients developed supraventricular tachycardia during an episode of diabeticketoacidosis. Five patients had absent P waves on baseline electrocardiography,and one patient had additional low QRS voltage. None of the patients hadstructural heart disease. Discontinuation of thiamine treatment appears totrigger supraventricular tachycardia episodes at puberty.

PDF

___

1. Porter FS, Roger LE, Sidbury JB Jr. Thiamine-responsive megaloblastic anemia. J Pediatr 1969; 74: 494-504.

2. Boros LG, Steinkamp MP, Fleming JC, Lee WN, Cascante M, Neufeld EJ. Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). Blood 2003; 102: 3556- 3561.

3. Akın L, Kurtoglu S, Kendirci M, Akın MA, Karakükçü M. Does early treatment prevent deafness in thiamineresponsive megaloblastic anemia syndrome? J Clin Res Pediatr Endocrinol 2011; 3: 36-39.

4. Ozdemir MA, Akcakus M, Kurtoglu S, Gunes T, Torun YA. TRMA syndrome (thiamine-responsive megaloblastic anemia): A case report and review of the literature. Pediatr Diabetes 2002; 3: 205-209.

5. Kurtoglu S, Hatipoglu N, Keskin M, Kendirci M, Akcakus M. Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: Report of two siblings. J Pediatr Endocrinol Metab 2008; 21: 393-397.

6. Tubaş F, Akyıldız B, Özcan A, Kurtoğlu S, Akın L, Baykan A. Diyabetes mellituslu bir hastada tiamine yanıt veren supraventriküler taşikardi. Çocuk Sağlığı ve Hastalıkları Dergisi 2014; 57: 262-264.

7. Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H. Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. Pediatr Cardiol 2003; 24: 476-481.

8. Mandel H, Berant M, Hazani A, Naveh Y. Thiaminedependent beriberi in the “thiamine-responsive anemia syndrome”. N Engl J Med 1984; 311: 836-838.