Alaei Fariba, Shakiba Marjan, Saneifard Hedyeh, Vahidshahi Kourosh, Alaei Mastaneh
Pediatric Cardiology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Pediatric Endocrinology and Metabolism Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Case Rep Cardiol. 2022 Apr 28;2022:5529355. doi: 10.1155/2022/5529355. eCollection 2022.
Cardiac involvement may accompany various inborn errors of metabolism (IEM) including fatty acid oxidation (FAO) disorders, presenting as rhythm disturbances, conduction abnormalities, cardiomyopathies, pericardial effusion, and sudden cardiac death. FAO disorders are rare mitochondrial diseases with variable organ involvements and clinical presentations. Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a FAO disorder with diverse clinical presentations. We report two VLCADD patients with cardiac involvement and diverse presentations. The first patient represents with cardiogenic shock and dilated cardiomyopathy (DCM) at childhood. The second patient represents with suspicious sepsis at early infancy and hypertrophic cardiomyopathy (HCM) at further evaluation. IEM should be thought of in every individual case with suspicious sepsis or cardiac failure regardless of age or previous history.
心脏受累可能伴随各种先天性代谢缺陷（IEM），包括脂肪酸氧化（FAO）障碍，表现为心律失常、传导异常、心肌病、心包积液和心源性猝死。FAO障碍是罕见的线粒体疾病，器官受累情况和临床表现各不相同。极长链酰基辅酶A脱氢酶缺乏症（VLCADD）是一种临床表现多样的FAO障碍。我们报告了两名有心脏受累且表现各异的VLCADD患者。首例患者在儿童期表现为心源性休克和扩张型心肌病（DCM）。第二例患者在婴儿早期表现为疑似脓毒症，进一步评估时为肥厚型心肌病（HCM）。无论年龄或既往病史如何，对于每一例疑似脓毒症或心力衰竭的患者都应考虑IEM。
