Pub Date : 2021-10-01DOI: 10.1136/heartjnl-2021-ics.4
J. Murphy, C. Kirk, G. Abboud Guerra, J. Galvin, D. Ward, T. Prendiville, C. Mcgorrian, S. Lynch
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.
3图2心房摄取患者和非心房摄取患者房颤自由度[摘要]心脏2021;107(补充2):2021年12月3日A1-A59 A5。P由赖特保护。httpeart。jj.com / H:首次发表于221年10月7日，号10.1136artjnl-2021-IC S .4。除桥粒基因DSG2、DSC2和JUP外，还包括MYL3、TPM1、ACTC1等基因。预测检测可能使多达789名基因型阴性个体(及其后代)放心并从长期心脏随访中解脱出来。我们的数据表明，成年女性比男性更愿意接受预测性测试。缺乏对几种心肌病基因的检测表明这些变异在爱尔兰人群中频率低或外显率低。在我们的队列中，大家庭的规模为开发基因外显率和基因型-表型相关数据提供了机会，以协助基因型阳性个体的临床管理。
{"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}
Pub Date : 2021-10-01DOI: 10.1136/heartjnl-2021-ics.1
J. Kumar, R. Kumar, R. Armstrong, R. Murphy, C. Daly
{"title":"1 Incidence and prevalence of MINOCA (myocardial infarction with non-obstructive coronary arteries) in STEMI patients: experience from Irish tertiary care centre","authors":"J. Kumar, R. Kumar, R. Armstrong, R. Murphy, C. Daly","doi":"10.1136/heartjnl-2021-ics.1","DOIUrl":"https://doi.org/10.1136/heartjnl-2021-ics.1","url":null,"abstract":"","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":"115960000","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}
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