COL6A1 loss of function mutation underlie atrioventricular septal defects in down syndrome patients

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Cheryl L. Maslen,* Darcie Babcock, Susan W. Robinson, Lora J.H. Bean, Kenneth J. Dooley, Virginia L. Willour, and Stephanie L. Sherman Department of Medicine, Division of Endocrinology, Oregon Health & Science University, Portland, Oregon Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon Heart Research Center, Oregon Health & Science University, ...

Atrioventricular Septal Defects

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we pre...

Atrioventricular conduction in secundum atrial septal defects.

The atrioventricular (A-V) conduction time in patients with secundum ASD who had left-toright shunts of 40-65% of their pulmonary flow was evaluated utilizing intracardiac electrograms. The A-V conduction time was divided into three components: (1) P-A interval, from the onset of the P wave to the time of excitation of muscle in the vicinity of the A-V node, (2) A-H interval, from the time of e...

Left atrioventricular valve regurgitation after correction of atrioventricular septal defects.

PURPOSE Progressive regurgitation of the left atrioventricular valve (AV) remains a major postoperative problem in the repair of atrioventricular septal defect (AVSD). The aim of this study was to review a case series of AVSD repair and reoperation for significant left AV valve regurgitation from this institution. METHODS Forty-nine patients underwent initial repair of AVSD between February 1...