Which of the following is true for Loeys-Dietz syndrome (LDS)?
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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Which of the following syndromes is/are NOT associated with pulmonary stenosis?
Shone syndrome. The key learning point is that Shone syndrome/complex describes left-sided obstructive lesions and is therefore not implicated in pulmonary stenosis.
Adult Congenital Heart Disease Syndromes Associated with Pulmonary Stenosis:
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