Pilot candidate gene analysis of patients <60 years old with aortic stenosis involving a tricuspid aortic valve

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Pilot candidate gene analysis of patients <60 years old with aortic stenosis involving a tricuspid aortic valve

机译：<60岁主动脉瓣狭窄涉及三尖瓣主动脉瓣的患者的候选基因分析

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The potential genetic basis of aortic stenosis in older people is poorly understood. A total of 265 patients with aortic stenosis involving tricuspid aortic valves and 961 controls were genotyped for ≤660 candidate single nucleotide polymorphisms (SNPs). After dividing the patients and controls into training and validation sets, we tested the correlation of the SNPs with the age-adjusted aortic valve area, determined by echocardiography or cardiac catheterization. A bootstrapped global p value of ≤0.005 was considered evidence of a possible significant correlation. The cases were aged 73 ± 7 years, and 72.7% were men. The median aortic valve area was 1.0 cm 2 (interquartile range 0.7 to 1.5). The controls were aged 69 ± 6 years, and 69.8% were men. The minor allele frequency was 21% ± 15% (37% 0.20). Three SNPs met the criteria for significant correlation (rs2276288 [MYO7A], p = 0.001; rs5194 [AGTR1], p = 0.004; rs207 307 [ELN], p = 0.005). Another 2 SNPs reached borderline significance (p ≤0.008). In conclusion, we report 3 SNPs to be associated with aortic stenosis involving tricuspid aortic valves in older subjects. Given the concerns regarding the problem of multiple statistical testing, validation studies are required to further assess these correlations.

机译：老年人主动脉瓣狭窄的潜在遗传基础知之甚少。对总共265例三尖瓣主动脉瓣狭窄和961例对照患者进行基因分型，得出≤660个候选单核苷酸多态性（SNP）。在将患者和对照组分为训练和验证集之后，我们测试了SNP与通过超声心动图或心脏导管检查确定的经年龄调整的主动脉瓣面积的相关性。 ≤0.005的自举全局p值被认为是可能显着相关的证据。病例年龄为73±7岁，男性为72.7％。中位主动脉瓣面积为1.0 cm 2（四分位间距0.7至1.5）。对照组年龄为69±6岁，男性为69.8％。次要等位基因频率为21％±15％（37％<0.20）。三个SNP符合显着相关性标准（rs2276288 [MYO7A]，p = 0.001; rs5194 [AGTR1]，p = 0.004; rs207 307 [ELN]，p = 0.005）。另外2个SNP达到临界值（p≤0.008）。总之，我们报告了3个SNP与老年受试者中涉及三尖瓣主动脉瓣的主动脉瓣狭窄相关。考虑到对多重统计测试问题的关注，需要进行验证研究以进一步评估这些相关性。

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《The American Journal of Cardiology》 |2012年第1期|共5页
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中图分类心脏、血管（循环系）疾病;
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1. Pilot candidate gene analysis of patients <60 years old with aortic stenosis involving a tricuspid aortic valve [J] . The American Journal of Cardiology . 2012,第1期

机译：<60岁主动脉瓣狭窄涉及三尖瓣主动脉瓣的患者的候选基因分析
2. Fused aortic valve without an elliptical-shaped systolic orifice in patients with severe aortic stenosis: cardiac computed tomography is useful for differentiation between bicuspid aortic valve with raphe and tricuspid aortic valve with commissural fusion [J] . Bak So Hyeon, Ko Sung Min, Song Meong Gun, European radiology . 2015,第4期

机译：重度主动脉瓣狭窄患者的融合式主动脉瓣无椭圆形收缩孔：心脏计算机断层摄影术可用于区分带缝的双尖瓣主动脉瓣和带连合融合的三尖瓣主动脉瓣
3. Transapical transcatheter aortic valve implantation followed by transfemoral transcatheter edge-to-edge repair of the tricuspid valve using the MitraClip system – a new treatment concept for an inoperable patient with significant aortic stenosis and severe tricuspid valve regurgitation [J] . Marek Kowalski, Norbert Franz, Steffen Hofmann, Advances in Interventional Cardiology: Postepy w Kardiologii Interwencyjnej . 2016,第3期

机译：经心尖导管经主动脉瓣植入，然后使用MitraClip系统经股动脉经三尖瓣边缘到边缘修复–一种无法手术的严重主动脉瓣狭窄和三尖瓣反流患者的新治疗方案
4. Comparative Finite Element Analysis of Patient-Specific Tricuspid and Bicuspid Aortic Valve [C] . Smiljana Djorovic, Nenad Filipovic, Aleksandar Milosavljevic, IEEE International Conference on Bioinformatics and Bioengineering . 2017

机译：患者特定的三尖瓣和双尖瓣主动脉瓣的比较有限元分析
5. Assessment of the fluid mechanics of aortic valve stenosis with in vitro modeling and control volume analysis. [D] . Heinrich, Russell Shawn. 1997

机译：通过体外建模和控制量分析评估主动脉瓣狭窄的流体力学。
6. Transapical transcatheter aortic valve implantation followed by transfemoral transcatheter edge-to-edge repair of the tricuspid valve using the MitraClip system – a new treatment concept for an inoperable patient with significant aortic stenosis and severe tricuspid valve regurgitation [O] . Marek Kowalski, Norbert Franz, Steffen Hofmann, 2016

机译：经心尖导管经主动脉瓣植入然后使用MitraClip系统经股动脉经三尖瓣边缘到边缘修复–一种无法手术的严重主动脉瓣狭窄和三尖瓣反流患者的新治疗方案
7. Poster Session 3The imaging examination and quality assessmentP626Value of mitral and tricuspid annular displacement to assess the interventricular systolic relationship in severe aortic valve stenosis : a Pilot studyP627Follow-up echocardiography in asymptomatic valve disease: assessing the potential economic impact of the European and American guidelines in a dedicated valve clinic, compared to standard care.P628The tricuspid valve: identification of optimal view for assessing for prolapseP629Right atrial volume by two-dimensional echocardiography in healthy subjectsP630Disturbance of inter and intra atrial conduction assessed by tissue doppler imaging in patients with medicaly controlled hypertension and prehypertension.P631Liver stiffness by shear wave elastography, new noninvasive and quantitative tool for acute variation estimation of central venous pressure in real-time?P632Weak atrial kick contribution is associated with a risk for heart failure decompensationP633Usefulness of wave intensity analysis in predicting the response to cardiac resynchronization therapyP634Early subclinical left ventricular systolic and diastolic dysfunction in gestational hypertension and preeclampsiaP635Clinical comparison of three different echocardiographic methods for left ventricular ejection fraction and LV end diastolic volume measurementP636Assessment of right ventricular-arterial coupling parameters by 3D echocardiography in patients with pulmonary hypertension receiving specific vasodilator therapyP637Prediction of right ventricular failure after left ventricular assist device implant: assessing usefulness of standard and strain echocardiographyP638Kinematic analysis of diastolic function using the novel freely available software Echo E-waves - feasibility and reproducibilityP639Evaluation of coronary flow velocity by Doppler echocardiography in the treatment of hypertension with the ARB: correlation to the histological cardiac fibrosisP640The clinical significance of limited apical ischaemia and the prognostic value of stress echocardiography - A contemporary study from a high volume centerP641Effects of intermediate stenosis of left anterior descending coronary artery on survival in patients with chronic total occlusion of right coronary arteryP642Left ventricular remodeling after a first myocardial infarction in patients with preserved ejection fraction at dischargeP643Left atrial size and acute coronary syndromes. Let is make simple.P644Influence of STEMI reperfusion strategy on systolic and diastolic functionP645Aortic valve resistance risk-stratifies low-gradient severe aortic stenosisP646Does permanent pacemaker implantation complicate the prognosis of patients after transcatheter aortic valve implantation?P647Influence of metabolic syndrome and diabetes on progression of calcific aortic valve stenosis - The COFRASA - GENERAC StudyP648Low referral for aortic valve replacement accounts for worse long-term outcome in low versus high gradient severe aortic stenosis with preserved ejection fractionP649The impact of right ventricular function from aortic valve replacement: A randomised study comparing minimally invasive aortic valve surgery and conventional open heart surgery [O] . T. Ota, DNS Senaratne, NK. Preston, 2016

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Pilot candidate gene analysis of patients <60 years old with aortic stenosis involving a tricuspid aortic valve

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