The frequency and efficacy of genetic testing in individuals with scimitar syndrome.
The frequency and efficacy of genetic testing in individuals with scimitar syndrome.
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DOI：
10.1017/s1047951121002535
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发表时间：
2022-04
影响因子：
1
通讯作者：
Morris SA
中科院分区：
文献类型：
--
作者：
Fick TA;Scott DA;Lupo PJ;Weigand J;Morris SA
弯刀综合征是一种罕见的先天性心脏病，由右肺经弯刀静脉向下腔静脉而不是左心房的部分肺静脉异常连接而成。与SS相关的遗传疾病目前还没有得到很好的研究。我们的研究包括1987年1月至2020年7月在德克萨斯州儿童医院诊断为SS的患者。评估医疗记录以确定是否进行了基因测试，包括染色体微阵列分析(CMA)或全外显子组测序(WES)。收集了被鉴定为致病/可能致病的拷贝数变异(CNV)和意义未知的变异。通过图表回顾对心脏和心外表现进行分析。98例SS患者被确认为SS，其中符合纳入标准。18例(20%)患者进行了染色体分析或CMA。在CMA检测阴性的6名患者中，进行了WES。18例中有7例(39%)进行了分子遗传学诊断。队列中96%的人有某种类型的心外发现，43%的人有哮喘，20%的人有胃肠道病理。在基因检测呈阳性的七名患者中，所有患者都有心脏外异常，除一名患者外，所有患者都有胃肠道症状，30%的患者有先天性横隔疝。基因检测在大约40%的被测试者中发现了潜在的诊断。鉴于病原性变异的发生率相对较高，我们建议将CMA和WES用于SS和心脏外畸形患者。
Scimitar syndrome (SS) is a rare congenital heart defect composed of partial anomalous pulmonary venous connection from the right lung, via a scimitar vein, to the inferior vena cava rather than the left atrium. Genetic conditions associated with SS have not been well-investigated at present. Our study included patients with SS diagnosed at Texas Children’s Hospital from January 1987 to July 2020. Medical records were evaluated to determine if genetic testing was performed, including chromosomal microarray analysis (CMA) or whole-exome sequencing (WES). Copy number variants (CNVs) identified as pathogenic/likely pathogenic and variants of unknown significance were collected. Analysis of cardiac and extracardiac findings were performed via chart review. Ninety-eight patients were identified with SS, 89 of which met inclusion criteria. A chromosome analysis or CMA was performed in 18 patients (20%). WES was performed in six patients following negative CMA testing. A molecular genetic diagnosis was made in 7 of 18 cases (39% of those tested). Ninety-six percent of the cohort had some type of extra-cardiac finding, with 43% having asthma and 20% having a gastrointestinal pathology. Of the seven patients with positive genetic testing, all had extra-cardiac anomalies with all but one having gastrointestinal findings and 30% having congenital diaphragmatic hernia. Genetic testing revealed an underlying diagnosis in roughly 40% of those tested. Given the relatively high prevalence of pathogenic variants, we recommend CMA and WES for patients with SS and extra-cardiac defects.
影响因子：
3.7
作者：
Nash D;Arrington CB;Kennedy BJ;Yandell M;Wu W;Zhang W;Ware S;Jorde LB;Gruber PJ;Yost HJ;Bowles NE;Bleyl SB
通讯作者：
Bleyl SB