Is a shorter atrioventricular septal length an intermediate phenotype in the spectrum of nonsyndromic atrioventricular septal defects?

doi:10.1016/j.echo.2012.03.011

Article

Is a shorter atrioventricular septal length an intermediate phenotype in the spectrum of nonsyndromic atrioventricular septal defects?

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography - 1 Jul 2012

Patel Sonali S, Mahoney Larry T, Burns Trudy L

Abstract excerpt

BACKGROUND: Atrioventricular septal defects (AVSDs) account for 7% of all congenital cardiovascular malformations. The atrioventricular septum (AVS) is the portion of the septal tissue that separates the right atrium from the left ventricle; deficiency of the AVS contributes to the AVSD phenotype. A study of case and control families was performed to identify whether an intermediate phenotype consisting of a...

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