Genetic Testing in Pediatric Left Ventricular Noncompaction.

Erin M Miller, Robert B Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R Shikany, Richard F Ittenbach, Stephanie M Ware
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引用次数: 49

Abstract

Background: Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield.

Methods and results: One hundred twenty-eight individuals diagnosed with LVNC at ≤21 years of age were identified, including 59% with idiopathic pathogenesis, 32% with familial disease, and 9% with a syndromic or metabolic diagnosis. Overall, 75 individuals had either cardiomyopathy gene panel (n=65) or known variant testing (n=10). The yield of cardiomyopathy gene panel testing was 9%. The severity of LVNC by imaging criteria was not associated with positive genetic testing, co-occurring cardiac features, pathogenesis, family history, or myocardial dysfunction. Individuals with isolated LVNC were significantly less likely to have a positive genetic testing result compared with those with LVNC and co-occurring cardiomyopathy (0% versus 12%, respectively; P<0.01).

Conclusions: Genetic testing should be considered in individuals with cardiomyopathy co-occurring with LVNC. These data do not suggest an indication for cardiomyopathy gene panel testing in individuals with isolated LVNC in the absence of a family history of cardiomyopathy.

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儿童左心室不致密性的基因检测。
背景:左心室不压实(LVNC)可以单独发生,也可以与心肌病表型或心血管畸形共同发生。诊断为LVNC的婴儿、儿童和青少年心肌病基因面板检测的结果尚不清楚。通过对患有LVNC的儿科人群进行特征分析,我们试图确定心肌病基因面板检测的产出率,区分合并或不合并心脏发现的LVNC检测的产出率,并确定影响基因检测产出率的其他因素。方法和结果:128名年龄≤21岁的LVNC患者被确定,其中59%为特发性发病机制,32%为家族性疾病,9%为综合征或代谢诊断。总的来说,75人有心肌病基因面板(n=65)或已知变异测试(n=10)。心肌病基因面板检测率为9%。根据影像学标准,LVNC的严重程度与阳性基因检测、共同发生的心脏特征、发病机制、家族史或心肌功能障碍无关。与LVNC合并心肌病患者相比,单独LVNC患者基因检测阳性的可能性显著降低(分别为0%和12%;结论:对于合并LVNC的心肌病患者应考虑进行基因检测。这些数据不建议在没有心肌病家族史的孤立性LVNC个体中进行心肌病基因面板检测的指征。
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来源期刊
Circulation: Cardiovascular Genetics
Circulation: Cardiovascular Genetics CARDIAC & CARDIOVASCULAR SYSTEMS-GENETICS & HEREDITY
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0
审稿时长
6-12 weeks
期刊介绍: Circulation: Genomic and Precision Medicine considers all types of original research articles, including studies conducted in human subjects, laboratory animals, in vitro, and in silico. Articles may include investigations of: clinical genetics as applied to the diagnosis and management of monogenic or oligogenic cardiovascular disorders; the molecular basis of complex cardiovascular disorders, including genome-wide association studies, exome and genome sequencing-based association studies, coding variant association studies, genetic linkage studies, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics; integration of electronic health record data or patient-generated data with any of the aforementioned approaches, including phenome-wide association studies, or with environmental or lifestyle factors; pharmacogenomics; regulation of gene expression; gene therapy and therapeutic genomic editing; systems biology approaches to the diagnosis and management of cardiovascular disorders; novel methods to perform any of the aforementioned studies; and novel applications of precision medicine. Above all, we seek studies with relevance to human cardiovascular biology and disease.
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