Augmentation index and the evolution of aortic disease in marfan-like syndromes (original) (raw)

2010, American Journal of Hypertension

nature publishing group original contributions Applanation tonometry (APT) is a noninvasive, highly reproducible, cost-efficient, and easy-to-use bedside test for assessing important parameters of arterial stiffness and pulse wave reflection including central pulse pressure (CPP), central systolic blood pressure, augmentation index (AIx), and carotid-femoral pulse wave velocity. 1,2 We have shown recently that an increased AIx and increased CPPs are related to aortic disease progression in Marfan syndrome (MFS). 2-6 MFS is caused by mutations in the gene coding for fibrillin-1, FBN1, resulting in aortic aneurysm, ectopia lentis, pneumothorax, and skeletal manifestations. 7 However, about one quarter of individuals with Marfan-like features display a wide spectrum of other syndromes. 8 Many of these syndromes carry a risk for aortic disease including Loeys-Dietz syndrome (LDS), 9 familial thoracic aortic aneurysm or dissection (TAAD), 10 vascular type of Ehlers-Danlos syndrome (EDS), 11 and nonsyndromic bicuspid aortic valves (BAVs), 7 whereas aortic disease is not described in familial ectopia lentis, 12 or familial Marfan-like habitus (MFS-like). 13 Other individuals with Marfan-like features cannot be diagnosed with any specific syndrome, although hereditary aortic disease may be present. 12,14 In clinical practice, it thus remains difficult to identify an increased aortic risk in individuals with Marfan-like features, especially when these do not have classic MFS. In this observational study, we performed APT in 78 consecutive adults with Marfan-like features in whom classic MFS had been excluded. We assessed the evolution of aortic disease during 20 ± 18 months of clinical follow-up in all individuals including echocardiography The first two authors contributed equally to this work.