Score — Marfan Z

[ Z = \frac\textObserved aortic root diameter - \textPredicted mean diameter\textStandard deviation (SD) of predicted mean ]

1. Overview & Clinical Context Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by a mutation in the FBN1 gene, leading to fibrillin-1 deficiency. Cardinal manifestations include skeletal, ocular, and cardiovascular abnormalities. The most life-threatening feature is progressive aortic root dilatation , which predisposes to aortic dissection and rupture. marfan z score

[ Z = \frac46 - 52.154.09 = \frac-6.154.09 = -1.50 \ (\textstill normal) ] [ Z = \frac\textObserved aortic root diameter -

Predicted mean = ( 14.0 + 18.7 \times 2.04 = 14.0 + 38.15 = 52.15 \text mm ) SD = ( 1.89 + 1.08 \times 2.04 = 1.89 + 2.20 = 4.09 \text mm ) The most life-threatening feature is progressive aortic root

[ Z = \frac38 - 52.154.09 = \frac-14.154.09 = -3.46 ]