Genetic testing for atrioventricular septal defect

Familial atrioventricular septal defect: possible genetic mechanisms.

BACKGROUND Most non-chromosomal congenital heart defects are thought to be caused by the interaction of genetic factors involving multiple genes and environmental factors. Families that have several affected members have been reported, however, which suggests that a single autosomal dominant or recessive gene may cause the cardiac defects. A family in which atrioventricular septal defect seemed...

Transesophageal echocardiography in an atrioventricular septal defect

Biventricular repair in unbalanced atrioventricular septal defect.

We present the case of a 2.5 year-old child with unbalanced atrioventricular septal defect due to a small left ventricle (LV) (mitral annulus of 10mm and a 0.4 ratio in relation to the tricuspid annulus, LVDD: 17 mm, LV Vd2: 15 ml/m(2) and LV/RV long-axis ratio of 0.71); he had a favorable outcome after biventricular surgical repair. Normal LV development was observed three months after the ope...

Understanding atrioventricular septal defect: Anatomoechocardiographic correlation

OBJECTIVE Correlate the anatomic features of atrioventricular septal defect with echocardiographic images. MATERIALS AND METHODS Sixty specimen hearts were studied by sequential segmental analysis. Echocardiograms were performed on 34 patients. Specimen hearts with findings equivalent to those of echocardiographic images were selected in order to establish an anatomo-echocardiographic correla...

Atrioventricular septal defect with cor triatriatum sinister.

Cor triatriatum (CT) is a rare cardiac anomaly, characterized by a membrane in the left atrium which separates the atrium into the proximal and distal chambers. Association of CT with atrioventricular septal defects (AVSD) is extremely rare; only three cases with complete AVSD and 10 with partial AVSD have been reported. In this study, we present an 11-month-old female infant with complete AVSD...