Aortic Root Enlargement in a Young Athlete

Figures

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  Figure 1. Aortic Root, Ascending Aorta, and Aortic Valve on Transthoracic Echocardiogram (A) Patient's aortic root diameter on transthoracic echocardiography parasternal long-axis view measuring 4.4 cm. (B) Ascending aorta diameter within normal limits. (C) Patient's trileaflet aortic valve on parasternal short-axis view.

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  Figure 2. Pedigree Chart of the Patient's Family This patient had a maternal grandfather who had a type A aortic dissection at age 50. One maternal aunt is under surveillance for an aortic aneurysm; her 2 sisters (including his mother) had normal echocardiograms.

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  Figure 3. Differential Diagnosis of Aortic Root Enlargement in an Athlete The differential for aortic enlargement in an athlete includes aortic remodeling due to athletic training or aortic enlargement secondary to an aortopathy. The potential etiologies of aortopathy include atherosclerotic disease, bicuspid aortic valve, heritable thoracic aortic disease (HTAD), inflammatory aortic aneurysm, or sporadic aortic aneurysm. Within HTAD, there are syndromic or nonsyndromic aneurysmal disorders.

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  Visual Summary. Diagnostic Algorithm for an Athlete With Aortic Root Enlargement ∗Patients with presumed nonsyndromic heritable thoracic aortic disease (nsHTAD) should undergo repeat genetic testing in 3 to 5 years as new genes and variants are discovered. †Imaging surveillance of the aorta is typically performed annually if stable, with the frequency depending on gene variant, age, aortic diameter, rate of aortic growth, and family history. ‡For nsHTAD, surgical repair should be considered when the aortic diameter is ≥5.0 cm in the absence of high-risk features, or ≥4.5 cm in the presence of high-risk features.