The Turkish Journal of Pediatrics 2018 , Vol 60 , Num 3
Arrhythmia in thiamine responsive megaloblastic anemia syndrome
Mustafa Argun 1 ,Ali Baykan 2 ,Nihal Hatipoğlu 3 ,Leyla Akın 3 ,Yavuz Şahin 4 ,Nazmi Narin 2 ,Selim Kurtoğlu 3
1 Department of Pediatrics, Division of Pediatric Cardiology, Health Sciences University, , Kayseri, Turkey
2 Department of Pediatric Cardiology, Erciyes University Medical Faculty, Kayseri, Turkey
3 Department of Pediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey
4 Medical Genetic Clinic, Necip Fazıl City Hospital, Kahramanmaraş, Turkey
DOI : 10.24953/turkjped.2018.03.021 Argun M, Baykan A, Hatipoğlu N, Akın L, Şahin Y, Narin N, Kurtoğlu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351.

Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. Mutations in the SLC19A2 gene that codes for thiamine transporter 1 protein cause TRMAS, and more than 30 homozygous mutations have been identified to date. Congenital heart diseases and arrhythmias have been reported in few patients. We present cardiac features of five patients with TRMAS. Five patients had macrocytic anemia, diabetes mellitus, and sensorineural deafness. Two siblings had also optic atrophy. SLC19A2 gene mutation was shown in all patients. Two patients developed supraventricular tachycardia during an episode of diabetic ketoacidosis. Five patients had absent P waves on baseline electrocardiography, and one patient had additional low QRS voltage. None of the patients had structural heart disease. Discontinuation of thiamine treatment appears to trigger supraventricular tachycardia episodes at puberty. Keywords : arrhythmia, thiamine, deafness, diabetes mellitus, megaloblastic anemia

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