Christina M Rigelsky1, Rocio T Moran2. 1. Center for Personalized Genetic Healthcare, Cleveland Clinic. 2. Division of Genetics and Genomics, The MetroHealth System, Cleveland, Ohio, USA.
Abstract
PURPOSE OF REVIEW: To review the literature and provide a summary of management of syndromic and nonsyndromic aortopathies. RECENT FINDINGS: The number of newly identified genetic causes for aortopathies have continued to increase over the past 10 years. The number of reported individuals with most hereditary aneurysm genes is small but increasing with more publications focusing describing the natural history caused by each gene. SUMMARY: Aortopathy can present as an isolated finding or present as part of a larger genetic syndrome. Advances in genetic testing technology has shed light on the increasing importance of molecular diagnostics in the evaluation and management of patients with hereditary aortic disease. Molecular diagnostics and family phenotyping can aide in the diagnosis and management of pediatric patients with aortic disease.
PURPOSE OF REVIEW: To review the literature and provide a summary of management of syndromic and nonsyndromic aortopathies. RECENT FINDINGS: The number of newly identified genetic causes for aortopathies have continued to increase over the past 10 years. The number of reported individuals with most hereditary aneurysm genes is small but increasing with more publications focusing describing the natural history caused by each gene. SUMMARY: Aortopathy can present as an isolated finding or present as part of a larger genetic syndrome. Advances in genetic testing technology has shed light on the increasing importance of molecular diagnostics in the evaluation and management of patients with hereditary aortic disease. Molecular diagnostics and family phenotyping can aide in the diagnosis and management of pediatric patients with aortic disease.
Authors: Andrew P Landstrom; Jeffrey J Kim; Bruce D Gelb; Benjamin M Helm; Prince J Kannankeril; Christopher Semsarian; Amy C Sturm; Martin Tristani-Firouzi; Stephanie M Ware Journal: Circ Genom Precis Med Date: 2021-08-20
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