Maria G Andreassi1, Alessandro Della Corte. 1. aCNR Institute of Clinical Physiology, Pisa bDepartment of Cardiothoracic Sciences, Second University of Naples, Monaldi Hospital, Naples, Italy.
Abstract
PURPOSE OF REVIEW: The incidence of aortic dilation and acute complications (rupture and dissection) is higher in patients with a bicuspid aortic valve (BAV), the most frequent congenital heart defect.The present review focuses on the current knowledge in the genetics of BAV, emphasizing the clinical implications for early detection and personalized care. RECENT FINDINGS: BAV is a highly heritable trait, but the genetic causes remain largely elusive. NOTCH1 is the only proven candidate gene to be associated with both familial and sporadic BAV. Other genes have been reported to be associated with BAV, but some of these associations may result from coexisting disease.The application of modern high-throughput technologies (next generation sequencing, genome-wide copy number and genome-wide methylation arrays) have begun to dissect the genetic heterogeneity underlying BAV as well as the diverse molecular pathways involved in the progression of BAV aortopathy. SUMMARY: The clinical variability seen in BAV aortopathy, in terms of phenotype and natural/clinical history, suggests complex interactions between primary genetic defects, other modifier genes, epigenetic factors (DNA methylation or histone modifications, microRNA) and environmental factors (disturbed flow). Integrated, more comprehensive studies are needed for elucidating these connections to develop more individualized and accurate risk assessment methods.
PURPOSE OF REVIEW: The incidence of aortic dilation and acute complications (rupture and dissection) is higher in patients with a bicuspid aortic valve (BAV), the most frequent congenital heart defect.The present review focuses on the current knowledge in the genetics of BAV, emphasizing the clinical implications for early detection and personalized care. RECENT FINDINGS: BAV is a highly heritable trait, but the genetic causes remain largely elusive. NOTCH1 is the only proven candidate gene to be associated with both familial and sporadic BAV. Other genes have been reported to be associated with BAV, but some of these associations may result from coexisting disease.The application of modern high-throughput technologies (next generation sequencing, genome-wide copy number and genome-wide methylation arrays) have begun to dissect the genetic heterogeneity underlying BAV as well as the diverse molecular pathways involved in the progression of BAV aortopathy. SUMMARY: The clinical variability seen in BAV aortopathy, in terms of phenotype and natural/clinical history, suggests complex interactions between primary genetic defects, other modifier genes, epigenetic factors (DNA methylation or histone modifications, microRNA) and environmental factors (disturbed flow). Integrated, more comprehensive studies are needed for elucidating these connections to develop more individualized and accurate risk assessment methods.
Authors: Sebastian Albinsson; Alessandro Della Corte; Azra Alajbegovic; Katarzyna K Krawczyk; Ciro Bancone; Umberto Galderisi; Marilena Cipollaro; Marisa De Feo; Amalia Forte Journal: Heart Vessels Date: 2017-01-19 Impact factor: 2.037
Authors: Michael A Borger; Paul W M Fedak; Elizabeth H Stephens; Thomas G Gleason; Evaldas Girdauskas; John S Ikonomidis; Ali Khoynezhad; Samuel C Siu; Subodh Verma; Michael D Hope; Duke E Cameron; Donald F Hammer; Joseph S Coselli; Marc R Moon; Thoralf M Sundt; Alex J Barker; Michael Markl; Alessandro Della Corte; Hector I Michelena; John A Elefteriades Journal: J Thorac Cardiovasc Surg Date: 2018-08 Impact factor: 5.209
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