Diagnosis
Review of the cases show that, on presentation, the great majority of
patients had evidence of congestive cardiac failure and pulmonary
hypertension in early infancy, with these features often reported in the
neonatal period when associated lesions are present. The chest
roentgenogram usually reveals a moderate increase in the cardiothoracic
ratio, along with pulmonary plethora. When present, multiple muscular
defects are more frequently diagnosed by transesophageal color coded
echocardiography, rather than transthoracic echocardiography. The
identification of the morphology, and location, of the defects is
important for selection of the appropriate therapeutic approach (Figures
2A, 2B).1-32,37-78
Some investigators have performed “en-face” reconstruction of multiple
septal defects as viewed from the right ventricle, based on orthogonal
echocardiographic views, so as to plan the surgical approach, and
predict the likelihood of postoperative heart block or the occurrence of
residual defects. Features noted have included the location and
dimensions of the defects, the distance of separation between additional
defects, the relationship to various right ventricular septal
landmarks.37 Contrast-enhanced and multidetector
computed-tomographic angiocardiography in angled oblique views have also
proved helpful in ascertaining the morphology and location of the septal
defects, together with evaluation of the aortic arch and its branches
(Figures 3A-3F, 4A-4F). Cardiac catheterization and angiocardiography
may still be indicated in some circumstances for evaluation of
associated cardiac anomalies. Despite echocardiography and
angiocardiography, it can still be difficult to recognize the boundaries
of the defect, particularly in the setting of the Swiss-cheese
septum.1-32,37-73 Indeed, we found several reports
describing additional defects recognized in the intraoperative and
postoperative period, as well as at necropsy.7,13
Associated cardiac and extracardiac anomalies were reported in one-third
to three-quarters of patients. Cardiac anomalies included common atrium,
Ebstein-like anomaly of the tricuspid valve with tricuspid stenosis or
regurgitation, endocardial fibroelastosis of the right ventricle,
pulmonary stenosis, patchy-endocardial sclerosis of the left ventricle,
downward displacement of the tricuspid valve, aneurysm of the membranous
septum, midline heart, juxtaposed right atrial appendages, double
orifice mitral valve with mitral stenosis, double outlet right
ventricle, Taussig-Bing anomaly, atrioventricular septal defect,
bilateral superior caval veins, subaortic stenosis, left superior caval
vein to coronary sinus, unroofed coronary sinus, tetralogy of Fallot,
atretic orifice of the coronary sinus, common arterial trunk, straddling
tricuspid valve, partially anomalous pulmonary venous connection,
transposition, right isomerism, pulmonary atresia, divided left atrium,
left isomerism, left ventricular outflow tract obstruction, interruption
of inferior caval vein, hypoplastic left ventricle, hypoplastic right
ventricle, congenital aortic stenosis, congenitally corrected
transposition, and criss-cross ventricles. Associated extracardiac
anomalies included patency of the arterial duct, hypoplasia of aortic
isthmus, coarctation of aorta, interrupted aortic arch, double aortic
arch, and hypoplastic aortic
arch.6-8,13-16,18,19,23,24,31,32,37