cardiovascular system
• 12 of 43 (27%) of heterozygotes display aortic arch phenotypes
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• hypoplastic aortic arch (HAA) in 2 of 43 heterozygotes
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• interrupted aortic arch (IAA) in 2 of 43 heterozygotes
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• coarctation of the aorta (CoA) in 3 of 43 heterozygotes
• when present, CoA occurs at a juxtaductal position, just distal to the left subclavian artery
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• patent ductus arteriosus (PDA) in 5 of 43 (12%) heterozygotes
• in some cases, PDA occurs in association with VSD and IAA
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• DORV with subpulmonic VSD in 1 of 36 heterozygotes
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• DORV with subaortic VSD in 6 of 36 heterozygotes
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• newborn heterozygotes display altered position of the cardiac apex with an abnormal boot-shaped apex pointing horizontally to the animals left
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• at E16.5, E18.5 and newborn stages, 11 of 36 (30%) heterozygotes display VSDs that are typically subaortic in location
• in most cases, the aortic valve overrides the right ventricle with 50% or greater overlap and the VSD is closely aligned with the aortic valve (DORV with subaortic VSD)
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• membranous VSD in 3 of 36 heterozygotes
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• muscular VSD in 1 of 36 heterozygotes
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• 15% of heterozygotes display aortic and pulmonary valve defects
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• bicuspid pulmonic valve in 1 of 26 heterozygotes
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• heterozygotes exhibit cardiac left ventricular outflow tract (LVOT) malformations
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• bicuspid aortic valve in 3 of 26 heterozygotes
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cellular
• patent ductus arteriosus (PDA) in 5 of 43 (12%) heterozygotes
• in some cases, PDA occurs in association with VSD and IAA
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