Tetralogy of Fallot

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Hemihypertrophy

Overgrowth of only one side of the body.


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PMID (PMCID)
26219535
 FEMALE Infant
Mosaic paternal genome-wide uniparental isodisomy with down syndrome.
Darcy D, Atwal PS, Angell C, Gadi I, Wallerstein R.
Am J Med Genet A. 2015;167A(10):2463-9.
Clinical features of this patient include: dysmorphic features consistent with trisomy 21, tetralogy of Fallot, hemihypertrophy, swirled skin hyperpigmentation, hepatoblastoma, and Wilms tumor.