Double-outlet right ventricle

Definition:

Double outlet right ventricle (DORV) is a clinically significant congenital heart defect. DORV is a condition in which the aorta rises from the right ventricle and is associated with ventricular septal defect. Chromosomal abnormalities are present in some cases of DORV. Trisomies 13 and 18, and del 22q11 are the most commonly associated cytogenetic lesions. Mutations in the CFC1 and GDF1 genes were the most commonly reported monogenic loci associated with DORV in humans.

References:

[1]. D Obler, et al. Double outlet right ventricle: aetiologies and associations. J Med Genet. 2008 Aug;45(8):481-97. [Content Brief]

[2]. Doff B McElhinney, et al. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol. 2003 Nov 5;42(9):1650-5. [Content Brief]

[3]. Elizabeth Goldmuntz, et al. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet. 2002 Mar;70(3):776-80. [Content Brief]

[4]. J D Karkera, et al. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov;81(5):987-94. [Content Brief]

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