Familial atrioventricular septal defect: possible genetic mechanisms.

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...

Familial Atrial Septal Defect with Prolonged Atrioventricular Conduction

This report describes a family with frequent recurrence of congenital heart disease in multiple generations. Eight members had atrial septal defect (ASD) of the fossa ovalis type and seven members had other forms of congenital heart disease. One branch of the pedigree showed a predominance of ASD with prolonged atrioventricular (A-V) conduction and initially suggested an autosomal dominant gene...

Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome.

OBJECTIVE To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. METHODS We performed a retrospective review of the medical charts and the ocular histopathological material of multiple members of a family. RESULTS Congenital Axenfeld-Rieger anomaly and glauc...

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...