04 — Valvular heart disease and general cardiology Aortic valve sclerosis-stenosis (AVS) is regarded a consequence of cardiovascular risk and genetic factors. Severe AVS is a significant cause of morbidity and mortality in 5% of individuals over 65 years of age. Despite previous attempts, little is known about genetics of AVS. We aimed to study genetic and non-genetic determinants of AVS in a large family with little cardiovascular risk factors. We identified a 5 generations large family of AVS. We proposed a screening to all relatives with clinical, biological and echocardiography assessment. Aortic valve (AV) calcium score was evaluated by CT scan. Biological assessment comprised especially DNA extraction for Next Generation Sequencing. The family comprises >100 relatives. To date 34 members (53.1 ± 14.7 years, 17 males) have been screened, 15 are affected (59.6 ± 10.8 years) and 19 non-affected (46.3 ± 13.6, P < 0.01). The youngest patient is a 36 years old woman with AV sclerosis. Echocardiographic examination revealed a unique inheritable phenotype of sclerosis or calcified progressive stenosis with a fusiform aorta in 7 patients. All AV were tricuspid, with a sclerosis in 12 (35.3%) or stenosis in 3 (8.8%). Aortic insufficiency (n = 6, 17.6%) was greater in affected members (P < 0.01). Ascending aorta was larger (38.8 ± 4.4 vs. 34.8 ± 8.7 mm, P = 0.05) and AV calcium was score greater (88.4 ± 199 vs. 0 UH) in affected members. High rate genotyping of 20 individuals allowed us to identify a common IBD (Identity By Descendance) region for all affected members on chromosome 5(rs4129875 to rs31619). Whole genome analysis was carried out in 4 cousins allowing the identification of 18 rare functional variants shared by at least 3 out of 4 sequenced individuals. Preliminary phenotypic and genetic approach of a large family of AVS reports a homogeneous and unique clinical portrait with early onset tricuspid AVS and fusiform aorta. While specific gene remains to be identified, IBD found a chromosome 5 region associated with AVS (Fig. 1).
Figure 1
Fusiform aorta.
Disclosure of interest peting interest.
The authors declare that they have no com-
https://doi.org/10.1016/j.acvdsp.2018.10.145
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Relationship between left ventricular ejection fraction and mortality in asymptomatic and minimally symptomatic patients with severe aortic stenosis Y. Bohbot 1,∗ , C. De Meester 2 , G. Chadha 1 , D. Rusinaru 1 , K. Belkhir 1 , A. Pasquet 2 , S. Maréchaux 3 , J.-L. Vanoverschelde 2 , C. Tribouilloy 1 1 CHU Amiens, Amiens, France 2 Cliniques universitaires Saint-Luc, Brussels, Bruxelles, Belgium 3 Groupement des hôpitaux de l’institut catholique de Lille, Lille, France ∗ Corresponding author. E-mail address:
[email protected] (Y. Bohbot) Background Aortic valve replacement (AVR) is a class I indication in asymptomatic patients with severe AS and LVEF < 50%. However, this is an uncommon situation in asymptomatic severe AS (<1% of patients) usually occurring late in the course of the disease. No data are available concerning the prognostic value of LVEF in asymptomatic or minimally symptomatic AS patients in order to propose a LVEF threshold value for AVR in these patients. Purpose The aim of this study was to determine the best left ventricular ejection fraction (LVEF) cut-off to predict long-term mortality in patients with asymptomatic or minimally symptomatic severe aortic stenosis (AS) and LVEF ≥ 50% under conservative management and after surgical correction of AS. Methods This analysis includes 1678 patients with preserved (≥50%) LVEF and no or minimal symptoms, diagnosed with severe AS. The population was divided into 3 groups: LVEF <55%, LVEF 55 to 59%, and LVEF ≥60%. Results Five-year survival rate was 72 ± 2% for patients with LVEF ≥60%, 74 ± 2% for patients with LVEF between 55 and 59% and 59 ± 4% for patients with LVEF <55% (P < 0.001). Under initial conservative or surgical management, patients with LVEF < 55% displayed significant excess mortality compared to patients with LVEF≥ 60% (Adjusted HR: 2.44 [1.51—3.94]; P = <0.001 and 2.51 [1.58—4.00]; P < 0.001 respectively), while patients with LVEF between 55 and 59% had a comparable prognosis to those with LVEF ≥ 60% (P = 0.53 and P = 0.36 respectively). Comparison of patients with LVEF < 55% according to the type of management demonstrated excess mortality in medically managed patients, even after covariate adjustment (Adjusted HR: 2.70 [1.98—3.67]; P < 0.001). Conclusion LVEF is a powerful predictor of survival in a population of AS patients with no or minimal symptoms at diagnosis and LVEF ≥ 50%. Patients with LVEF < 55% (14%) exhibited excess mortality when managed conservatively and after AVR and should be considered for surgery before this stage. Disclosure of interest The authors declare that they have no competing interest. https://doi.org/10.1016/j.acvdsp.2018.10.146 401
Sport practice after mitral valve repair for primary mitral regurgitation: Are we not too restrictive? A. Blanc 1,∗ , Y. Lavie-Badie 1 , O. Lairez 1 , P. Fournier 1 , E. Cariou 1 , B. Marcheix 2 , E. Grunenwald 2 , C. Cron 2 , J. Porterie 2 , F. Labaste 2 , D. Carrie 1 , M. Galinier 1 1 Cardiology 2 Cardiac surgery, Rangueil hospital, CHU de Toulouse, Toulouse, France ∗ Corresponding author. E-mail address:
[email protected] (A. Blanc)