PDF(Pubmed)
Abstract：
Purpose: Myocarditis is frequently a sporadic disease, but may also occur in the context of genetic disorders which may increase susceptibility to cardiac inflammation. Cardiac involvement in Wolfram syndrome type 1 (WS1) has been scarcely characterized. To our knowledge, no cases of virus-negative myocarditis have been reported in the WS1 pediatric population. Methods: We report the description of a pediatric case of acute myocarditis in the context of WS1, followed by a literature review of cardiovascular involvement associated with wolframin variants, and discuss potential pathophysiological mechanisms and therapeutic options. Results: A young patient with WS1, treated with insulin and liraglutide, was admitted for acute chest pain. Cardiac magnetic resonance and endomyocardial biopsy were performed to confirm the clinical suspicion of myocarditis. While congenital heart diseases and arrhythmias have been described previously in patients with WS1, this is the first description of virus-negative myocarditis. Conclusions: Myocarditis may represent a possible manifestation of cardiovascular involvement in WS1. Cardiovascular screening may be considered in patients with WS1.
摘要：
目的：心肌炎通常是一种散发性疾病，但也可能发生在遗传性疾病的背景下，这可能会增加对心脏炎症的易感性。1型Wolfram综合征（WS1）的心脏受累几乎没有特征。据我们所知,在WS1儿科人群中没有病毒阴性心肌炎病例的报道.方法：我们报告了在WS1的背景下急性心肌炎的儿科病例的描述，随后是与wolframin变体相关的心血管受累的文献综述。并讨论潜在的病理生理机制和治疗方案。结果：一名年轻的WS1患者，接受胰岛素和利拉鲁肽治疗，因急性胸痛入院。进行心脏磁共振和心内膜活检以确认临床怀疑心肌炎。虽然先前已经在WS1患者中描述了先天性心脏病和心律失常，但这是对病毒阴性心肌炎的首次描述。结论：心肌炎可能是WS1心血管受累的一种可能表现。WS1患者可考虑进行心血管筛查。
