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Hypertrophic cardiomyopathy in children

机译：小儿肥厚型心肌病

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Hypertrophic cardiomyopathy (HCM) is a genetic condition causing unexplained left ventricular hypertrophy. The diagnosis management and risk stratification in the pediatric ages is often a challenge. At present the pillars of the diagnosis are echocardiography, electrocardiography and comprehensive family screening. The genetic diagnosis still only available in research units allows the diagnosis of those carrying a mutation. HCM is however characterized by broad heterogeneity as well a variable penetrance. It is important to stress the importance diagnosis of HCM within the spectrum of other conditions different than the typical HCM originated in mutation in the genes encoding the sarcomeric proteins. Other causes of unexplained left ventricular hypertrophy like mitochondrial diseases, Noonan syndrome, Danon's disease, Anderson-Fabry disease, metabolic syndrome and storage disease need to be excluded in order to improve the management and genetic counseling advice. HCM is a recognized cause of sudden cardiac death, therefore routine follow up need to ensure the identification of the subjects at high risk of sudden cardiac death. Severe left ventricular hypertrophy and non sustained ventricular tachycardia are amongst the risk markers for sudden cardiac death the ones with stronger predicted value in childhood. ICD implantation is effective in preventing sudden cardiac death in children with HCM. There is increasing evidence and experience to support the decision process leading to safe implantation of an ICD. Management of symptomatic patients with HCM requires identification of those with left ventricular outflow tract gradient.
机译：肥厚型心肌病（HCM）是导致无法解释的左心室肥大的遗传疾病。小儿年龄的诊断管理和风险分层通常是一个挑战。目前，诊断的支柱是超声心动图，心电图和综合家庭筛查。仍然只能在研究单位中进行的遗传诊断可以对携带突变的人进行诊断。然而，HCM的特征是广泛的异质性和可变的渗透率。重要的是要在不同于典型HCM的其他条件范围内强调HCM的重要性诊断，而其他典型HCM起源于编码肌节蛋白的基因突变。需要排除无法解释的左心室肥大的其他原因，例如线粒体疾病，Noonan综合征，Danon病，Anderson-Fabry疾病，代谢综合征和贮积病，以改善管理和遗传咨询建议。 HCM是心源性猝死的公认原因，因此需要进行常规随访，以确保识别出心源性猝死高风险的受试者。严重的左室肥大和非持续性室性心动过速是儿童猝死的危险标志，而这些危险在儿童期具有更强的预测价值。 ICD植入可有效预防HCM儿童的心源性猝死。有越来越多的证据和经验来支持导致ICD安全植入的决策过程。对有症状的HCM患者的治疗需要确定左心室流出道梯度的患者。

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