The outcome of genetic and non-genetic pediatric cardiomyopathies

Ali AlAlakhfash, Luciano Agati, Giuseppe Mazzesi, Dalia Elhobi, Abdullah Alqwaiee, Khalid Alhory, Abdulrahman Almesned, Zuhair Alhasnan, Abdullah Alwadai
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Abstract

Pediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective single-center review of cardiomyopathy patients from January 2011 to May 2020. Results of the genetic study, as well as the outcome, were reported. Patients were divided according to the type of CMP, age of presentation, and EF at presentation. Univariate and multivariate analysis and ROC and survival curves were done. We reported 229 patients under 14 years of age with a diagnosis of cardiomyopathy, most commonly DCM (160 patients (70%)) followed by HCM (26.2%). 52% presented at 6 months of age or less and 119 (52%) required ICU admission at presentation. The genetic and or metabolic disorder was confirmed in 21.4% of patients, most commonly VLCAD defect (16, 7%) and ELAC2 gene defect (10, 4.4%). During the disease course, 88 patients (38.4%) died (48 with DCM, 39 with HCM, and 1 with RCM). An EF of 20% or less at presentation and presentation at 6 months of age or less carries a risk for mortality in patients with DCM and HCM, respectively (RR 3.88 and 2.06 and OR of 11.09 and 4.35, respectively). Death was more common among HCM patients especially patients with positive genetic abnormality compared with patients with DCM. The mortality for CMP in children reaches up to 40%, (30% in DCM and 65% in HCM patients). Mortality was higher in those with HCM, DCM with EF of 20% or less, and HCM presented at 6 months of age or less. Whole-exome and/or whole-genome sequencing is advised for all patients of CMP and at-risk family members.
遗传性和非遗传性小儿心肌病的治疗结果
小儿心肌病(CMP)可以是家族性或特发性的,基因突变的检出率越来越高。该研究是对2011年1月至2020年5月期间的心肌病患者进行的单中心回顾性研究。报告了基因研究的结果以及治疗效果。根据 CMP 的类型、发病年龄和发病时的 EF 值对患者进行了分类。进行了单变量和多变量分析,并绘制了 ROC 曲线和生存曲线。我们报告了 229 名 14 岁以下确诊为心肌病的患者,其中最常见的是 DCM(160 名患者(70%)),其次是 HCM(26.2%)。52%的患者在 6 个月或更小的时候发病,119 人(52%)在发病时需要入住重症监护室。21.4%的患者被证实患有遗传或代谢性疾病,最常见的是VLCAD缺陷(16,7%)和ELAC2基因缺陷(10,4.4%)。在病程中,88 名患者(38.4%)死亡(48 名 DCM 患者、39 名 HCM 患者和 1 名 RCM 患者)。DCM 和 HCM 患者发病时 EF 值为 20% 或更低,以及发病时年龄为 6 个月或更低,都有死亡风险(RR 分别为 3.88 和 2.06,OR 分别为 11.09 和 4.35)。与 DCM 患者相比,HCM 患者尤其是基因异常呈阳性的患者更容易死亡。儿童 CMP 死亡率高达 40%(DCM 患者为 30%,HCM 患者为 65%)。在 HCM、EF 值为 20% 或更低的 DCM 和 6 个月或更小的 HCM 患者中,死亡率更高。建议对所有 CMP 患者和高危家庭成员进行全外显子组和/或全基因组测序。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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