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

Timothy E Paterick, Julie A Humphries, Khawaja Afzal Ammar, M Fuad Jan, Rachel Loberg, Michelle Bush, Bijoy K Khandheria, A Jamil Tajik

Journal: The American journal of medicine 2013;126(8):670-8

PMID: 23800581

Full Text on Elsevier Science View on PubMed

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.

Address: Aurora Cardiovascular Services, Aurora Sinai/Aurora St. Luke's Medical Centers, University of Wisconsin School of Medicine and Public Health, Milwaukee, WI, USA. [email protected]

DOI: 10.1016/j.amjmed.2013.01.029

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MeSH Terms: Actins, Aortic Aneurysm, Aortic Aneurysm, Thoracic, Aortic Valve, Arachnodactyly, Bicuspid Aortic Valve Disease, Contracture, Diagnosis, Differential, Ductus Arteriosus, Patent, Echocardiography, Ehlers-Danlos Syndrome, Heart Valve Diseases, Humans, Iris, Livedo Reticularis, Loeys-Dietz Syndrome, Marfan Syndrome, Mitral Valve Prolapse, Myopia, Prognosis, Skin Diseases