Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: a case report.
Successful heart transplantation in a patient with adolescent-onset dilated cardiomyopathy secondary to propionic acidaemia: a case report.
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DOI：
10.1093/ehjcr/ytac202
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发表时间：
2022-06
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丙酸血症（PA）是一种常染色体隐性遗传疾病，由丙酰辅酶A羧化酶（一种代谢丙酰辅酶A的线粒体酶）缺乏引起。一般来说，PA患者在新生儿期由于通过母乳喂养摄入蛋白质而出现症状;然而，最近报告了具有非典型症状（包括心肌病）的迟发性PA。我们报告一例25岁男性迟发性PA合并孤立性继发性扩张型心肌病导致的晚期心力衰竭（HF），需要植入左心室辅助装置（LVAD）并最终接受心脏移植（HTx）。最初，患者在16岁时发生HF，并被诊断为线粒体心肌病。由于难治性HF，他接受了LVAD植入术，并计划进行HTx。在HTx术前期间，患者因LVAD传动系出口部位感染恶化并发明显代谢性酸中毒而发生败血症，最终诊断为迟发性PA。在诊断后，引入了充分的营养干预，心脏功能部分恢复，足以使他脱离LVAD;然而，患者变得依赖正性肌力药物并接受HTx。HTx后的过程是平安无事的特殊营养管理，他在过去3年中没有经历过不良代谢事件。晚发性PA可引起孤立的成人型心肌病，当PA并发晚期HF且对常规药物治疗无反应时，应考虑LVAD或HTx。
Propionic acidaemia (PA) is an autosomal recessive disorder resulting from deficiency of propionyl-CoA carboxylase, a mitochondrial enzyme that metabolizes propionyl-CoA. Generally, patients with PA develop symptoms in the neonatal period due to protein intake through breastfeeding; however, late-onset PA with atypical symptoms, including cardiomyopathy, has been recently reported. We present the case of a 25-year-old male with late-onset PA complicated by advanced heart failure (HF) due to isolated secondary dilated cardiomyopathy, who required left ventricular assist device (LVAD) implantation and finally underwent heart transplantation (HTx). Initially, the patient developed HF at the age of 16 and was diagnosed with mitochondrial cardiomyopathy. Due to refractory HF, he underwent an LVAD implantation and was scheduled for HTx. During the preoperative period for HTx, the patient suffered from sepsis due to the worsening of LVAD driveline exit-site infection complicated by overt metabolic acidosis, finally leading to the diagnosis of late-onset PA. After this diagnosis, adequate nutritional interventions were introduced, and the cardiac function was partially restored enough for him to be weaned-off LVAD; however, the patient became inotrope dependent and underwent HTx. The post-HTx course was uneventful with special nutritional management, and he has experienced no adverse metabolic events in the past 3 years. Late-onset PA can cause isolated adult-onset cardiomyopathy, and LVAD or HTx should be considered when PA is complicated by advanced HF and is unresponsive to conventional medical therapies.