Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management

Abstract

Aortic root and ascending aortic dilatation are indicators associated with risk of aortic dissection, which varies according to underlying etiologic associations, indexed aortic root size, and rate of progression. Typical aortic involvement is most commonly seen in syndromic cases for which there is increasing evidence that aortic aneurysm represents a spectrum of familial inheritance associated with variable genetic penetrance and phenotypic expression. Aortic root and ascending aortic dimensions should be measured routinely with echocardiography. Pharmacologic therapy may reduce the rate of progression. Timing of surgical intervention is guided by indexed aortic size and rate of change of aortic root and ascending aorta dimensions. Lifelong surveillance is recommended.

Keywords: Aortopathy; Bentall composite graft; Bicuspid aortic valve; Familial thoracic aneurysm; Ghent diagnostic criteria; Loeys-Dietz syndrome; MASS phenotype; Marfan syndrome.