AHA/ACC Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (2010)

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Commentary by Reed E. Pyeritz, MD, PhD

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2010 Guidelines

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2010 Guidelines: applying classification of recommendations and level of evidence

Defective Gene Leading to Familial Thoracic Aortic Aneurysms and DissectionContribution to Familial Thoracic Aortic Aneurysms and DissectionAssociated Clinical FeaturesComments on Aortic Disease
TGFBR2 mutations4%Thin, translucent skin
Arterial or aortic tortuosity
Aneurysm of arteries
Multiple aortic dissections documented at aortic diameters < 5.0cm
MYH11 mutations1%Patent ductus arteriosusPatient with documented dissection at 4.5cm
ACTA2 mutations14%Livedo reticularis
Iris flocculi
Patent ductus arteriosus
Bicuspid aortic valve
Two of 13 patients with documented dissections < 5.0cm