Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS)

JJ Maleszewski, DV Miller, J Lu, HC Dietz… - The American journal …, 2009 - journals.lww.com
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder resulting
from genetic mutations in the transforming growth factor β receptors 1 and 2 (TGFBR1 and
TGFBR2). The syndrome is characterized phenotypically by hypertelorism, bifid uvula,
and/or cleft palate, and arterial tortuosity with aneurysms and dissections. LDS has a much
more rapid clinical course than Marfan syndrome (MFS) and thus those diagnosed with LDS
are currently being recommended for prophylactic aortic root replacement at younger ages …