Argun Mustafa, Baykan Ali, Hatipoğlu Nihal, Akın Leyla, Şahin Yavuz, Narin Nazmi, Kurtoğlu Selim
Department of Pediatrics, Division of Pediatric Cardiology, Health Sciences University, , Kayseri, Turkey.
Department of Pediatric Cardiology, Erciyes University Medical Faculty, Kayseri, Turkey.
Turk J Pediatr. 2018;60(3):348-351. 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.
阿尔贡·M、巴伊坎·A、哈蒂波卢·N、阿金·L、萨欣·Y、纳林·N、库尔托卢·S。硫胺素反应性巨幼细胞贫血综合征中的心律失常。《土耳其儿科学杂志》2018年；60:348 - 351。硫胺素反应性巨幼细胞贫血综合征（TRMAS）是一种罕见的常染色体隐性疾病，其特征为巨幼细胞贫血、糖尿病和进行性感音神经性耳聋。编码硫胺素转运蛋白1的SLC19A2基因突变导致TRMAS，迄今为止已鉴定出30多种纯合突变。少数患者报告有先天性心脏病和心律失常。我们介绍5例TRMAS患者的心脏特征。5例患者有大细胞性贫血、糖尿病和感音神经性耳聋。2例同胞还有视神经萎缩。所有患者均显示有SLC19A2基因突变。2例患者在糖尿病酮症酸中毒发作期间出现室上性心动过速。5例患者基线心电图显示P波消失，1例患者还有低QRS电压。所有患者均无结构性心脏病。硫胺素治疗的中断似乎会在青春期引发室上性心动过速发作。
