Kathleen C. Kent, PhD, Melissa L. Crenshaw, MD, Denise L. M

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Presentation transcript:

Genotype–phenotype correlation in patients with bicuspid aortic valve and aneurysm Kathleen C. Kent, PhD, Melissa L. Crenshaw, MD, Denise L.M. Goh, MD, Harry C. Dietz, MD The Journal of Thoracic and Cardiovascular Surgery Volume 146, Issue 1, Pages 158-165.e1 (July 2013) DOI: 10.1016/j.jtcvs.2012.09.060 Copyright © 2013 The American Association for Thoracic Surgery Terms and Conditions

Figure 1 Pedigrees of 14 families: 13 with bicuspid aortic valve (BAV)/ascending aortic aneurysm (AscAA), and 1 with calcified tricommissural aortic valve/AscAA. Arrows denote the family member selected for NOTCH1 sequence analysis. AscAA includes both aortic root and ascending aortic dilation. TGA, Transposition of the great arteries; HLHS, hypoplastic left heart syndrome; COARC, coarctation of the aorta; VSD, ventricular septal defect; UAV, unicommissural aortic valve; PFO, patent foramen ovale; LCA, left cerebral artery. Adapted with permission from Loscalzo and colleagues.4 The Journal of Thoracic and Cardiovascular Surgery 2013 146, 158-165.e1DOI: (10.1016/j.jtcvs.2012.09.060) Copyright © 2013 The American Association for Thoracic Surgery Terms and Conditions

Figure 2 Characterization of coding variants identified within NOTCH1. A, Schematic of NOTCH1 protein domains with the location of each variant indicated. B, Variant P1377S in family S is present in proband SII:6 and unaffected sibling (Sib) SII:3, but absent in a control and affected sibling SII:5. Protein conservation reveals proline at position 1377 is not conserved in rat and mouse. C, Variant T1090S in proband TII:4. This substituted amino acid is conserved down to fruit fly. EGF, Epidermal growth factor; LIN, LIN-12/Notch repeats; FCS, furin cleavage site; TMD, transmembrane domain; RAM, RAM domain; ANK, ankyrin repeats; PEST, proline, glutamate, serine, threonine-rich degradation motif; BAV, bicuspid aortic valve; AscAA, ascending aortic aneurysm. The Journal of Thoracic and Cardiovascular Surgery 2013 146, 158-165.e1DOI: (10.1016/j.jtcvs.2012.09.060) Copyright © 2013 The American Association for Thoracic Surgery Terms and Conditions