BACKGROUND Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. METHODS AND RESULTS Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial...

Pulmonic stenosis unassociated with a ventricular septal defect of significant size is often a complex abnormality. The stenosis may be valvular, infundibular, or both, and may be associated with an atrial septal defect or even with a small ventricular septal defect. Preoperative studies cannot accurately predict these variations. The surgical approach selected for such patients should permit t...

Pulmonic stenosis unassociated with a ventricular septal defect of significant size is often a complex abnormality. The stenosis may be valvular, infundibular, or both, and may be associated with an atrial septal defect or even with a small ventricular septal defect. Preoperative studies cannot accurately predict these variations. The surgical approach selected for such patients should permit t...

Pulmonic stenosis unassociated with a ventricular septal defect of significant size is often a complex abnormality. The stenosis may be valvular, infundibular, or both, and may be associated with an atrial septal defect or even with a small ventricular septal defect. Preoperative studies cannot accurately predict these variations. The surgical approach selected for such patients should permit t...

OBJECTIVE To study the clinical pattern of subaortic stenosis associated with perimembranous ventricular septal defect. METHODS From January 1979 to June 2000, 36 children with perimembranous ventricular septal defect and fixed subaortic stenosis were followed-up regarding anatomic characteristics, evolvement, and clinical events. RESULTS Age at diagnosis of subaortic stenosis ranged from 6...

The specialized atrioventricular (A-V) conduction system was electrophysiologically delineated during open-heart surgery in four patients with congenitally corrected transposition of the great vessels and associated ventricular septal defect and one patient with single ventricle. Two consistent observations were made: 1) In no case was the specialized A-V conduction system found in the right at...

Ventricular septal defects are the most common congenital heart defect. They vary greatly in location, clinical presentation, associated lesions, and natural history. The present article describes the clinical aspects of ventricular septal defects and current management strategies.

The continuous machinery murmur heard over the pulmonary area is generally evidence of a patent ductus arteriosus, but there are exceptions when the murmur is due to congenital aortic septal defect (Gross, 1952; Gasul et al., 1951), to perforated aortic sinus into the right ventricle (Jones and Langley, 1949; Wood, 1950), or to rupture of an aortic aneurysm into the pulmonary artery (White et a...

T HE auscultatory and phonocardiographic characteristics of ventricular septal defects have been the subject of several studies,'-5 none of them dealing specifically with the features of small defects. The present study represents an attempt to define the phonocardiographic pattern of ventricular septal defect with a small left-to-right shunt and normal pulmonary artery pressure. It was hoped t...

conclusions children with chd are at risk of severe complications with the involvement of other organs. long-term febrile illness should be taken seriously in these children. they need hospitalization and careful evaluation. case presentation a 6-year-old girl with a ventricular septal defect (vsd) was presented. echocardiography revealed large vegetation in the right ventricular outflow tract ...