The following are key points to remember from this educational article about managing aortopathies in adult congenital heart disease and genetic aortopathy syndromes:

1. Progressive proximal aortic dilatation is common in adults with congenital heart disease. The heterogeneity of disease processes and limited data for dissection risk for most complex congenital heart disease present a challenge to providers.
2. In patients with Marfan syndrome (MFS), risk for dissection increases significantly at aortic diameters ≥50 mm. Risk factors for dissection include family history of aortic dissection and pregnancy.
3. Neoaortic dilatation is common in patients after arterial switch operation for transposition of the great arteries, occurring in 50-65% of patients. Significant aortic valve regurgitation and the need for aortic surgery appear to be rare.
4. All patients with MFS should undergo at least yearly imaging of the ascending aorta with transthoracic echocardiography. Patients with aortic root diameter >45 mm or those with significant growth should be imaged more frequently. An aortic magnetic resonance imaging (MRI) or computed tomography (CT) scan should be performed at baseline. Patients with normal distal aortic dimensions may undergo repeat MRI or CT every 5 years, while patients with aneurysmal distal aorta should undergo an annual MRI or CT. MRI is generally preferred over CT scan in patients with congenital heart disease because of the risk of cumulative radiation exposure from serial CT scans over many years.
5. Blood pressure control with target systolic blood pressure of <120 mm Hg in patients with MFS is recommended. Prophylactic pharmacotherapy is also recommended. Recent randomized controlled trials have not demonstrated a clear benefit of losartan over atenolol. Additional ongoing trials and likely meta-analyses may provide additional guidance on this issue.
6. In regards to pregnancy in MFS, European guidelines recommend surgical intervention prior to pregnancy if the aorta is ≥45 mm. American guidelines recommend intervention with aortic diameters ≥40 mm.
7. For patients with bicuspid aortic valve, the authors recommend transthoracic echocardiography every 5 years if aortic dimensions are stable and <40 mm. With aortic diameters from 40-45 mm, the frequency of echocardiogram may be either every year or every 2 years depending on rate of growth. For patients with aortic diameter ≥45 mm, a baseline MRI is recommended, along with annual transthoracic echocardiography.
8. Patients with coarctation of the aorta should undergo regular follow-up at specialized adult congenital heart programs. Cardiac MRI or CT scan should be performed at baseline and every 5 years depending on baseline pathology, including aortic dimensions and co-existing issues at the repair site.
9. For patients with more complex congenital heart disease such as tetralogy of Fallot, transposition of the great arteries, and complex single ventricle lesions associated with aortic dilatation, there is insufficient evidence to determine specific surgical thresholds for aortic root replacement. For all of these lesions, however, dissection or rupture appear very uncommon at diameters <55 mm.
10. Sports and exercise, particularly strenuous isometric and resistance exercises, may increase the risk of aortic dissection. Patients should be counseled regarding dissection risks and activity restrictions.

Keywords: Aortic Aneurysm, Aortic Coarctation, Aortic Valve Insufficiency, Atenolol, Blood Pressure, Cardiac Imaging Techniques, Cardiac Surgical Procedures, Dilatation, Echocardiography, Exercise, Heart Defects, Congenital, Heart Valve Diseases, Losartan, Marfan Syndrome, Magnetic Resonance Imaging, Radiation Injuries, Sports, Tetralogy of Fallot, Tomography, Tomography, X-Ray Computed

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