Bicuspid aortic valve is heritable
Linda Cripe, MD*,
Gregor Andelfinger, MD*,
Lisa J. Martin, PhD ,
Kerry Shooner, MS* and
D. Woodrow Benson, MD, PhD*,*
* Department of Pediatrics, Division of Cardiology, Institut de Recherches Cliniques de Montreal, Montreal, Canada
Center for Epidemiology and Biostatistics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA
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Figure 1 Schematic depiction of echocardiographic two-dimensional cross-sections of the aortic valve in the parasternal short axis used for morphologic assessment and nomenclature. L = left; R = right.
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Figure 2 Pedigrees depicting 50 kindreds used in analysis. Squares = males; circles = females. Darkened left upper quadrant = bicuspid aortic valve; darkened right lower quadrant = other cardiovascular (CV) malformation.
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Figure 3 Echocardiographic images of bicuspid aortic valve. (A) R-Non, diastole; (B) R-Non, systole; (C) R-L, diastole; (D) R-L, systole. Arrows= commissure location and orientation. Orientation arrows in D correspond to echocardiographic cross-sections for all panels. L = left; R = right.
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Figure 4 Flow chart illustrating phenotype classification numbers of 97 subjects with bicuspid aortic valve and/or cardiovascular malformation in study sample. Percents are relative to the total of 97 individuals with cardiovascular malformation. BAV = bicuspid aortic valve; CoA = coarctation of the aorta, CVM = cardiovascular malformation.
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