Marfan Syndrome, Loeys-Dietz Syndrome and Related Aortopathies

Marfan syndromeMarfan syndrome (MFS) and Loeys-Dietz syndromeLoeys-Dietz syndrome (LDS) are connective tissue disordersConnective tissue disorder associated with aortopathyAortopathy in childhood. Childhood aortopathyAortopathy can be associated with other syndromic conditions, either associated with connective tissue disordersConnective tissue disorder like vascular Ehlers-Danlos syndrome (vEDS), or not, like arterial tortuosity syndrome (ATS), bicuspid aortic valveBicuspid aortic valve (BAV), or some types of familial thoracic aortic aneurysm and dissection (FTAAD). Family screening is key as early diagnosis and effective management can improve outcomes. MFS and LDS can be discriminated from other causes of aortopathyAortopathy/arteriopathy in childhood by clinical assessment and geneticGenetics testing. Echocardiography, MRI and/or CT can be used for aortic surveillance. Medical therapy includes beta-blockers (BB) and/or angiotensin receptor blockers (ARB), with surgical intervention for aortic repair tailored to disease- and patient-specific factors. LDS is associated with need for heightened aortic surveillance, earlier introduction of medical therapy and increased risk of aortic dissection compared to MFS or other aortopathiesAortopathy. BB and ARB, when indicated, may both be of more benefit if started early, and in the setting of a malignant family history and/or rapid aortic root growth.