Phenotypic and genotypic approach of a large family with early onset tricuspid aortic valve sclerosis-stenosis: A multimodality evaluation

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  Fig. 1 ).