Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: A new midline disorder

We report on a Lebanese family in which 12 persons had an atrial septal def ect and various cardiac and noncardiac anomalies. Cardiac anomalies are lef t axis deviation of QRS, right bundle branch block, atrial fibrillation, Wo lff-Parkinson-White syndrome, nodal atrioventricular rhythm, aortic stenosi s, pulmonic valve stenosis, mitral stenosis (Lutembacher syndrome), and low implantation of the tricuspid valve (Ebstein disease). Noncardiac abnormal ities consisted specially of the presence of hypertelorism, cleft lip, and pectus excavatum, This combination appears to constitute a hitherto undescr ibed autosomal dominant midline disorder of the heart and upper half of the body with almost full penetrance and variable expressivity, The mutation d oes not map to any known locus involved in atrial septal defect or conducti on block, (C) 1999 Wiley-Liss, Inc.