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4 Predictive genetic testing in inherited cardiac conditions: findings from a large Irish cohort 遗传性心脏病的预测性基因检测:来自爱尔兰大型队列的研究结果
Brian Maurer young investigator award finalists 2021 Pub Date : 2021-10-01 DOI: 10.1136/heartjnl-2021-ics.4
J. Murphy, C. Kirk, G. Abboud Guerra, J. Galvin, D. Ward, T. Prendiville, C. Mcgorrian, S. Lynch
{"title":"4 Predictive genetic testing in inherited cardiac conditions: findings from a large Irish cohort","authors":"J. Murphy, C. Kirk, G. Abboud Guerra, J. Galvin, D. Ward, T. Prendiville, C. Mcgorrian, S. Lynch","doi":"10.1136/heartjnl-2021-ics.4","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-ics.4","url":null,"abstract":"3 Figure 2 Freedom from atrial fibrillation in patients with and without atrial uptake Abstracts Heart 2021;107(Suppl 2):A1–A59 A5 on O cber 3, 2021 by gest. P rocted by coright. httpeart.bm jcom / H ert: frst pulished as 10.1136artjnl-2021-IC S .4 on 7 O cber 221. D ow nladed fom genes (MYL3, TPM1, ACTC1), in addition to the desmosomal genes DSG2, DSC2 and JUP. Conclusion Predictive testing has potentially allowed up to 789 genotype-negative individuals (and their offspring) to be reassured and discharged from long term cardiac follow-up. Our data suggests adult females are more forthcoming for predictive testing than their male counterparts. The absence of testing for several cardiomyopathy genes suggests low frequency or low penetrance of these variants in the Irish population. The large size of families in our cohort represents an opportunity to develop gene penetrance and genotype-phenotype correlation data to assist in clinical management of genotype-positive individuals.","PeriodicalId":266670,"journal":{"name":"Brian Maurer young investigator award finalists 2021","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134216782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
1 Incidence and prevalence of MINOCA (myocardial infarction with non-obstructive coronary arteries) in STEMI patients: experience from Irish tertiary care centre STEMI患者MINOCA(非阻塞性冠状动脉心肌梗死)的发病率和患病率:来自爱尔兰三级保健中心的经验
Brian Maurer young investigator award finalists 2021 Pub Date : 2021-10-01 DOI: 10.1136/heartjnl-2021-ics.1
J. Kumar, R. Kumar, R. Armstrong, R. Murphy, C. Daly
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引用次数: 1
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