成人起病的PPA2缺陷型线粒体疾病中的非缺血性心肌病。
Nonischemic Cardiomyopathy in Adult-Onset PPA2-Deficient Mitochondrial Disease.
作者信息
Théberge Emilie, Code Jillianne, Khoo John K, Lai Chi, Ignaszewski Andrew, Virani Sean, Toma Mustafa, Roston Thomas M, Sedlak Tara, Lehman Anna
机构信息
Faculty of Medicine, Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Faculty of Education, Department of Curriculum and Pedagogy, University of British Columbia, Vancouver, Canada; HeartLife Foundation of Canada, Vancouver, Canada.
出版信息
JACC Case Rep. 2025 Aug 20;30(24):104676. doi: 10.1016/j.jaccas.2025.104676.
BACKGROUND
Nonischemic cardiomyopathy (NICM) can be caused by single-gene mutations, including genes such as inorganic pyrophosphatase 2 (PPA2) with multisystem effects.
CASE SUMMARY
A 28-year-old woman presenting with respiratory symptoms was discharged with a diagnosis of decompensated idiopathic NICM. Her NICM progressively worsened, and the patient underwent a heart transplant at the age of 38 and again at the age of 42. At age 47, genetic testing confirmed 2 mutations in the PPA2 gene that had caused her NICM.
DISCUSSION
This patient is to our knowledge the oldest published to date (48 years) presenting with cardiac symptoms who has PPA2 deficiency, a mitochondrial disease characterized by sudden cardiac death in infancy.
TAKE-HOME MESSAGE: This case exemplifies the utility of employing genetic testing early in the diagnostic workup of NICM before applying the designation "idiopathic."
背景
非缺血性心肌病（NICM）可由单基因突变引起，包括具有多系统效应的基因，如无机焦磷酸酶2（PPA2）。
病例摘要
一名出现呼吸道症状的28岁女性出院时被诊断为失代偿性特发性NICM。她的NICM逐渐恶化，患者在38岁时接受了心脏移植，并在42岁时再次接受心脏移植。47岁时，基因检测证实PPA2基因存在2个突变，这些突变导致了她的NICM。
讨论
据我们所知，该患者是迄今为止已发表的出现心脏症状且患有PPA2缺乏症的年龄最大的患者（48岁），PPA2缺乏症是一种线粒体疾病，其特征为婴儿期猝死。
要点
本病例体现了在将NICM诊断为“特发性”之前，早期在NICM诊断检查中进行基因检测的实用性。
Zotero 插件