Novel XIAP mutation with early-onset Crohn’s disease complicated with acute heart failure: a case report

BMC Cardiovascular Disorders

Case Report

Chendong Peng¹  Qiao Zhou¹  Lei Liao¹  Yuang Jiang¹  Chengying Yang¹  Xinrong Fan²  Xianhong Ou³  Yan Wei³  Lijia Chang⁴ 

[1]Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, 646000, Luzhou, Sichuan, China

[2]Department of Cardiology, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, 646000, Luzhou, Sichuan, China

[3]Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Collaborative Innovation Center for Prevention and Treatment of Cardiovascular Disease, Institute of Cardiovascular Research, Southwest Medical University, 646000, Luzhou, Sichuan, China

[4]Key Laboratory of Medical Electrophysiology of Ministry of Education and Medical Electrophysiological Key Laboratory of Sichuan Province, Collaborative Innovation Center for Prevention and Treatment of Cardiovascular Disease, Institute of Cardiovascular Research, Southwest Medical University, 646000, Luzhou, Sichuan, China

[5]Prenatal Diagnosis Center, Shijiazhuang Obstetrics and Gynecology Hospital, Key Laboratory of Maternal and Fetal Medicine of Hebei Province, 16 Tangu-North Street, 050000, Shijiazhuang, Hebei, China

关键词: XIAP;    Heart failure;    Crohn’s disease;    Thiamine deficiency;   

DOI  :  10.1186/s12872-023-03386-6

 received in 2023-05-14, accepted in 2023-07-10,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundThe X-linked inhibitor of apoptosis (XIAP) protein is encoded by the XIAP gene and is critical for multiple cell responses and plays a role in preventing cell death. XIAP mutations are associated with several diseases, primarily including hemophagocytic lymphohistiocytosis and inflammatory bowel disease (IBD). We report the clinical features and results associated with hemizygous mutation of the XIAP gene in a young male with Crohn’s disease complicated with acute heart failure.This 16-year-old patient ultimately died of heart failure.Case presentationA young male of 16 years of age was initially diagnosed with Crohn’s disease based on evidences from endoscopic and histological findings. Although supportive care, anti-infective drugs and biologics were administered consecutively for 11 months, his clinical manifestations and laboratory indices (patient’s condition) did not improved. Additionally, the patient exhibited a poor nutritional status and sustained weight loss. Subsequently, acute heart failure led to the exacerbation of the patient’s condition. He was diagnosed with wet beriberi according to thiamine deficiency, but the standard medical therapy for heart failure and thiamine supplementation did not reverse the adverse outcomes. Comprehensive genetic analysis of peripheral blood-derived DNA revealed a novel hemizygous mutation of the XIAP gene (c.1259_1262 delACAG), which was inherited from his mother.ConclusionA novel XIAP mutation (c.1259_1262 delACAG) was identified in this study. It may be one of the potential pathogenic factors in Crohn’s disease and plays an important role in the progression of heart failure. Additionally, thiamine deficiency triggers a vicious cycle.

【 授权许可】

CC BY   
© The Author(s) 2023

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