The following are key points to remember from a joint statement on management of aortic disease in children with FBN1-related Marfan syndrome:

1. Echocardiographic imaging:
• Two-dimensional transthoracic echocardiography (2D TTE) is the preferred imaging technique for diagnosis and surveillance.
• The aorta should be measured at 7 levels (annulus, sinuses, sinotubular junction, ascending, arch, descending, and abdominal).
• Measurements should be obtained during systole from inner edge to inner edge; z-score should be calculated using the method of Lopez, et al. (J Am Soc Echocardiogr 2010;23:465-95). An alternative is to measure leading edge to leading edge during diastole (following recommendations for adults with aortic disease) and calculating the z-score using the method of Campens, et al. (Am J Cardiol 2014;114:914-20).
• 2D TTE should be performed yearly in children with Marfan syndrome; imaging should be more frequent if the aorta is large (diameter ≥45 mm) or if there is rapid growth (>5 mm/yr).
2. Magnetic resonance imaging (MRI) and computed tomographic angiography (CTA) imaging:
• MRI is preferred to CTA to limit exposure to ionizing radiation. CTA should be performed if MRI is not tolerated or if there is suspicion of an acute aortic event.
• MRI z-score should be calculated using the method of Kaiser, et al. (J Cardiovasc Magn Reson 2008;10:56).
• Cross-sectional imaging for baseline measurements can be considered when children can tolerate an examination without sedation, usually at about 10 years of age. Cross-sectional imaging can be deferred to adulthood in children with appropriate visualization on 2D TTE, normal or almost normal aortic diameter, and no asymmetry of the aortic valve. Cross-sectional imaging can be considered at an earlier age (even if sedation or general anesthesia is required) if 2D TTE does not provide accurate data, if the aorta is approaching surgical threshold, or if there is accelerated aortic growth (>5 mm/yr or increase in z-score >1 standard deviation).
• The frequency of repeat MRI surveillance should align with clinical needs, and can be considered every 5 years in children with a large aorta or with aortic valve asymmetry.
• Neck-to-pelvis MRI can be considered in all patients at the first MRI examination in part to assess the tortuosity of neck vessels (a predictor of outcome). MRI of cerebral vessels is not required in children with Marfan syndrome in part owing to the low likelihood of cerebrovascular aneurysm.
3. Medical therapy:
• Medical treatment with the maximally tolerated dose of a beta-blocker (BB) or angiotensin-receptor blocker (ARB) is recommended in children with Marfan syndrome and aortic dilation. Treatment can be considered in children with normal aortic size in the setting of additional risk factors (arterial tortuosity, specific genetic variants, or family history of early aortic dissection).
• Combination therapy with a BB and ARB should be considered if there is rapid progression (≥5 mm/yr), or if the aortic diameter is >40 mm or the z-score is >5.
• An angiotensin-converting enzyme inhibitor can be considered if BBs and ARBs are contraindicated. Calcium-channel blockers should be avoided due to a possible associated increased risk of acute aortic events.
4. Surgical treatment:
• Surgery is recommended in children with Marfan syndrome when the aortic root diameter is 50 mm. Surgery can be considered at a root diameter of 45 mm in the setting of additional risk factors (including family history of dissection at a low aortic diameter, rapid growth (>5 mm/yr or z-score increase ≥1 standard deviation) or if there is an independent indication for valve surgery.
• Aortic valve-sparing surgery is preferred to aortic valve replacement because it avoids the need for life-long anticoagulation. Within valve-sparing modalities, the reimplantation technique is preferred.
5. Exercise, and recreational and competitive sports participation:
• In making recommendations for sports participation in children with Marfan syndrome, the type, frequency, and intensity of a sport should be considered in addition to the severity of aortic disease.
• Competitive sports are not recommended except for skills, low-intensity sports such as bowling, curling, or golf.
• In children ≤10 years old, any recreational sport can be considered without restriction; but the possibility of future age-related restriction should be discussed.
• In children >10 years old, power sports are not recommended.
• In children >10 years old and aortic root z-score <3, skill, mixed, or endurance sports can be considered at a recreational level at any intensity.
• In children >10 years old and aortic root z-score ≥3 or diameter ≥40 mm, skill, mixed, or endurance sports at a recreational level can be considered at a moderate intensity (defined as being able to hold a conversation during exercise).
• Because certain professions entail significant physical demands, similar considerations should be applied when advising patients on future job selection.

Clinical Topics: Cardiac Surgery, Congenital Heart Disease and Pediatric Cardiology, Diabetes and Cardiometabolic Disease, Noninvasive Imaging, Prevention, Cardiac Surgery and CHD and Pediatrics, Congenital Heart Disease, CHD and Pediatrics and Imaging, CHD and Pediatrics and Prevention, Exercise

Keywords: Diagnostic Imaging, Exercise, Heart Defects, Congenital, Marfan Syndrome

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