Pediatrics Department, Pediatric cardiology division, Faculty of Medicine, Cairo University, Cairo 11562 Egypt.
Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, 11562 Egypt.
Afr Health Sci. 2022 Mar;22(1):200-209. doi: 10.4314/ahs.v22i1.26.
Inborn errors of metabolism (IEMs) commonly present with pediatric cardiomyopathy. Identification of the underlying cause is necessary as it may lead to improved outcomes.
We aimed to investigate the diagnostic rate, the clinical, and biochemical spectra of IEMs among Egyptian pediatric patients presenting with cardiomyopathy, and their outcome measures.
We retrospectively analyzed the clinical, biochemical, and radiological data of 1512 children diagnosed with cardiomyopathy at Cairo University Children's Hospital over a 5-year duration.
Two hundred twenty-nine children were clinically suspected as IEMs and underwent metabolic workup. Nineteen different IEMs were confirmed in 57 (24.4%) of the suspected children. Their median age at presentation was 2.6 years and the majority had extra-cardiac manifestations. Hypertrophic cardiomyopathy represented 43/57 (75.4%) of confirmed cases, while dilated cardiomyopathy represented 13/57 (22.8%), and one patient presented with a mixed phenotype. Twenty- six patients (45.6%) survived, while 31 patients (54%) either died or were lost to follow up and assumed deceased.
We developed for the first time a database and a diagnostic scheme for metabolic cardiomyopathies in Egyptian children. With the recent introduction of enzyme replacement therapy, many metabolic disorders became treatable, thus establishing an early and accurate diagnosis is extremely important.
先天性代谢缺陷（IEMs）常导致小儿心肌病。确定潜在病因非常重要，因为这可能会改善患儿的预后。
我们旨在调查埃及小儿心肌病患者中 IEM 的诊断率、临床和生化特征及其预后评估。
我们回顾性分析了开罗大学儿童医院 5 年内诊断为心肌病的 1512 例儿童的临床、生化和影像学数据。
229 例患儿被临床怀疑为 IEM，并进行了代谢检查。在 57 例疑似患儿中确诊了 19 种不同的 IEM。这些患儿的中位发病年龄为 2.6 岁，大多数存在心脏外表现。肥厚型心肌病占确诊病例的 43/57（75.4%），扩张型心肌病占 13/57（22.8%），1 例患儿表现为混合型。26 例（45.6%）患儿存活，31 例（54%）患儿死亡或失访，被假定为死亡。
我们首次为埃及儿童建立了代谢性心肌病的数据库和诊断方案。由于最近引入了酶替代疗法，许多代谢性疾病变得可治疗，因此早期和准确的诊断非常重要。
