Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics Yield and Clinical Significance
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics Yield and Clinical Significance
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DOI：
10.1161/circgen.119.002748
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发表时间：
2020-04-01
影响因子：
7.4
通讯作者：
Adler, Arnon
中科院分区：
文献类型：
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作者：
Hoss, Sara;Habib, Manhal;Adler, Arnon
背景基因检测有助于类肥厚型心肌病（HCM）的诊断。几乎没有数据是关于产量的这种testingandits clinical impairs.MethodsThe HCM基因数据库在我们的中心被用于识别谁接受了HCM定向基因检测，包括至少1个基因与HCM模拟（GLA，TTR，PRKAG2，LAMP2，PTPN11，RAF1，DES）的患者。图表进行了回顾性审查，遗传和临床datasesextracted.ResultsThere有1731无关的HCM患者进行了至少1个基因相关的HCM模拟基因检测。在1.45%的病例中，鉴定出这些基因之一的致病性或可能致病性变体。这包括1%的法布里病，0.3%的家族性淀粉样变性，0.15%的PRKAG 2相关心肌病，和1例努南综合征患者的收益率。在大多数患者中，仅根据临床结果诊断HCM模拟物具有挑战性。HCM模拟的准确诊断导致改变管理（例如，酶替代疗法）或家庭screening in all cases.ConclusionsGenetic Testing is helpful in the diagnosis of HCM mimics in patients with no or few extradecardiac apparents.HCM mimics in the patients with no or few.应考虑将这些基因添加到所有HCM基因组中。
BackgroundGenetic testing is helpful for diagnosis of hypertrophic cardiomyopathy (HCM) mimics. Little data are available regarding the yield of such testing and its clinical impact.MethodsThe HCM genetic database at our center was used for identification of patients who underwent HCM-directed genetic testing including at least 1 gene associated with an HCM mimic (GLA, TTR, PRKAG2, LAMP2, PTPN11, RAF1, and DES). Charts were retrospectively reviewed and genetic and clinical data extracted.ResultsThere were 1731 unrelated HCM patients who underwent genetic testing for at least 1 gene related to an HCM mimic. In 1.45% of cases, a pathogenic or likely pathogenic variant in one of these genes was identified. This included a yield of 1% for Fabry disease, 0.3% for familial amyloidosis, 0.15% for PRKAG2-related cardiomyopathy, and 1 patient with Noonan syndrome. In the majority of patients, diagnosis of the HCM mimic based on clinical findings alone would have been challenging. Accurate diagnosis of an HCM mimic led to change in management (eg, enzyme replacement therapy) or family screening in all cases.ConclusionsGenetic testing is helpful in the diagnosis of HCM mimics in patients with no or few extracardiac manifestations. Adding these genes to all HCM genetic panels should be considered.