Genetic of Aortic Valve Stenosis - Clinical and Therapeutic Implications

Conditions

Aortic Valve Stenosis

Keywords

Aortic Valve stenosis, Genetic, Mineralisation inhibitors

Brief summary

Pathophysiology of Aortic Valve Stenosis remains poorly known. The aim of the present study is to identify genetic factors involved in this disease using a case control trial design.

Detailed description

Aortic valve stenosis (AS) is the most common valvular disease and the second most common indication for cardiac surgery in Western countries. AS has long been considered as a passive and degenerative process. Recent data challenged this concept, showing that AS is an active and highly regulated process with some similarities to atherosclerosis. However, pathophysiology of AS remains poorly understood and preliminary data suggest that genetic factors may be involved. The aim of the present study is to identify genetic factors involved in this disease using a case control trial design (1000 patients with AS and 1500 controls with no evidence of valve disease). For all patients and controls, blood samples including DNA and echocardiography will be performed.

Tania Pawade, Marie‐Annick Clavel, Christophe Tribouilloy, Julien Dreyfus, Tiffany Mathieu et al. (25 authors)

Circulation Cardiovascular Imaging2018-03-01360 citations

10.1161/circimaging.117.007146

P650Influence of fetunin-a level on progression of calcific aortic valve stenosis The COFRASA - GENERAC StudyP651Common carotid artery remodeling 1 year after aortic valve surgeryP652Low gradient aortic stenosis with preserved ejection fraction: reclassification of severity by 3D transesophageal echocardiography. P653Results of balloon aortic valvuloplasty in patients with impaired left ventricle ejection fraction.P654Burden of associated aortic regurgitation in patients with mitral regurgitationP655Differences in right ventricular mechanics in acute and chronic ischemic mitral regurgitation after inferoposterior myocardial infarctionP656Tricuspid regurgitation in patients operated for severe symptomatic native aortic stenosis: pre-operative determinantsP657Echocardiographic diagnosis in patients with prosthetic or annuloplasty ring dysfunction: correlation with surgical findingsP659Agreement analisys of different three-dimensional transoesophageal echocardiographic modalities and cardiac CT scan in aortic annulus sizing for transapical heart valve implantationP660Elevated gradients after TAVR are associated with increased rehospitalization, but have no impact on mortality and major adverse cardiac eventsP661Echocardiographic characteristics of post-TAVI thrombosis and endocarditis: single-centre experienceP662Impact of mixed aortic valve disease in long-term mortality after transcatheter aortic valve implantationP663Quantification of mitral regurgitation during interventional valve repair: correlation between haemodynamic parameters and 3D color Doppler echocardiographyP664Mitraclip in functional mitral regurgitation: are immediate results the same in ischemic and non ischemic etiology?P665Left ventricular contractile reserve by stress echocardiography as a predictor of response to cardiac resynchronization therapy in heart failure: a meta-analysisP666Regardless of the definition used, left ventricular reverse remodeling is not different in fibrosis positive and negative dilated cardiomyopathy patientsP667Heterogeneity of LV contractile function by multidimensional strain in patients with EF<35%: Insights for the hemodynamic burdenP668Ability of 99mTc-DPD scintigraphy to predict conduction disorders requiring permanent pacemaker in patients with transthyretin-related cardiac amyloidosisP669Provocation of left ventricular outflow tract obstruction using nitrate inhalation in hypertrophic cardiomyopathy: relation to electromechanical delayP670Could echocardiographic features differentiate Fabry cardiomyopathy from sarcomeric forms of hypertrophic cardiomyopathy?P671Pregnancy is well tolerated in women with arrhythmogenic right ventricular cardiomyopathy P672Glycogen storage cardiomyopathy (PRKAG2): do particular echocardiography findings in established and advanced techniques are helpful in suggesting the diagnosis?P673Improvement of arterial stiffness and myocardial deformation in patients with poorly controlled diabetes mellitus type 2 after optimization of antidiabetic medication

Naozumi Kubota, Joann Petrini, Ariana González Gómez, DS. Sorysz, JM. Monteagudo Ruiz et al. (100 authors)

European Heart Journal - Cardiovascular Imaging2016-12-01

10.1093/ehjci/jew250.001

Haemodynamic and anatomic progression of aortic stenosis

Virginia Nguyen, Claire Cimadevilla, Candice Estellat, Isabelle Codogno, Virginie Huart et al. (12 authors)

Heart2015-02-0577 citations

10.1136/heartjnl-2014-307154

Prognostic value of B-type natriuretic peptide in elderly patients with aortic valve stenosis: the COFRASA-GENERAC study.

Cimadevilla C, Cueff C, Hekimian G, Dehoux M, Lepage L, Iung B, Duval X, Huart V, Tubach F, Vahanian A, Messika-Zeitoun D.

2013-01-2425 citations

10.1136/heartjnl-2012-303284

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

Inclusion criteria

Patients: Inclusion criteria : * Age \>=18 years * Pure isolated degenerative aortic valve stenosis

Exclusion criteria

: * Rheumatic, congenital or post-radiation aortic stenosis * Severe renal insufficiency (clearance \< 30 ml/min) * Aortic insufficiency \> or = grade 2/4 * Other valve disease \> or = grade 2/4 Controls Inclusion criteria : \- Age \>=18 years

Design outcomes

Primary

Measure	Time frame
Identification of genetic polymorphisms of fetuin-A, matrix-GLA protein, vitamin D receptor	end of the study

Secondary

Measure	Time frame
Identification of other genetic polymorphisms	End of the Study

Countries

France

Outcome results