Cardiology>>>>>Adult Congenital Heart Disease and Pregnancy
Question 96#

Which of the following is true for Loeys-Dietz syndrome (LDS)?

A. Inheritance is autosomal recessive
B. FBN1 mutations have been implicated
C. The risk of aortic dissection is lower than for patients with Marfan syndrome
D. Patients are characteristically tall with long extremities
E. Hypertelorism, bifid uvula, and arterial tortuosity are common features

Correct Answer is E

Comment:

Hypertelorism, bifid uvula, and arterial tortuosity are common features. LDS is an autosomal dominant syndrome caused by transforming growth factor-fl receptor gene mutations and characterized by the triad of (a) arterial tortuosity and aneurysms, (b) hypertelorism, and (c) bifid uvula or cleft palate. Almost all patients with LDS will develop aortic root dilatation that requires early surgical intervention due to the increased risk of dissection and rupture in these patients. Surgical intervention is recommended once the aortic root (or other aortic segments) is >4.0 cm or rapidly expanding (>0.5 cm over 1 year). Other aortic segments and branch vessels may also be involved. While there is overlap in the skeletal manifestations of Marfan syndrome and LDS (both demonstrate joint hyperlaxity, arachnodactyly, pectus deformity, and scoliosis), long limbs and tall stature are not characteristic of LDS. 

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