Docx Martine K F, Loeys Bart, Simons Annik, Gewillig Marc, Proost Dorien, Van Laer Lut, Mertens Luc
Department of Paediatrics Queen Paola Children's Hospital, Antwerp, Belgium.
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
J Cardiol Cases. 2014 Jul 22;10(3):81-84. doi: 10.1016/j.jccase.2014.03.012. eCollection 2014 Sep.
We report an anorexic adolescent girl with an intermittent Brugada syndrome. A 14-year-old anorexic girl with a body mass index (BMI) of 13.15 kg/m was admitted in the acute state of the disease with an ST elevation in V1 and V2, suggestive of Brugada syndrome. After 1 month of re-feeding, a control electrograph (ECG) was normal, but after an 8-month follow-up control with a nearly normal BMI, the ECG was again suggestive of Brugada syndrome. A genetic analysis of the gene SNC5A established a genetic change (p Leu 1582 pro), which provides the final explanation for the Brugada syndrome. Every rhythm problem in the acute state or during the re-feeding procedure deserves a strict follow-up to distinguish iatrogenic from heritable rhythm problems. < (i) We report the first case of a patient with anorexia nervosa with an intermittent Brugada syndrome. (ii) Moderate hypothermia can decrease the depolarization of pacemaker cells and cause ST-segment changes. (iii) Every rhythm problem in the acute state or during the re-feeding procedure deserves a strict follow-up to distinguish iatrogenic from heritable rhythm problems. (iv) A genetic analysis can make the distinction and is necessary to give advice for the future lifestyle of the patient.>.
我们报告一例患有间歇性 Brugada 综合征的厌食青少年女孩。一名 14 岁的厌食女孩,体重指数(BMI)为 13.15kg/m²,在疾病急性期因 V1 和 V2 导联 ST 段抬高入院,提示 Brugada 综合征。重新进食 1 个月后,对照心电图(ECG)正常,但在随访 8 个月且 BMI 接近正常后,ECG 再次提示 Brugada 综合征。对 SCN5A 基因的遗传分析发现了一个基因变化(p Leu 1582 pro),这为 Brugada 综合征提供了最终解释。急性状态或重新进食过程中的每一个节律问题都值得严格随访,以区分医源性节律问题和遗传性节律问题。<(i)我们报告了首例神经性厌食症患者合并间歇性 Brugada 综合征的病例。(ii)中度低温可降低起搏细胞的去极化并导致 ST 段改变。(iii)急性状态或重新进食过程中的每一个节律问题都值得严格随访,以区分医源性节律问题和遗传性节律问题。(iv)基因分析可以做出区分,并且对于为患者未来的生活方式提供建议是必要的。>